1 – 250 of 278
- show: 250
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2024
-
Mark
A guide to barley mutants
(
- Contribution to journal › Scientific review
-
Mark
Proteomic profiling reveals that ESR1 mutations enhance cyclin-dependent kinase signaling
(
- Contribution to journal › Article
-
Mark
A genomic mutational constraint map using variation in 76,156 human genomes
(
- Contribution to journal › Article
-
Mark
Rare-variant collapsing and bioinformatic analyses for different types of cardiac arrhythmias in the UK Biobank reveal novel susceptibility loci and candidate amyloid-forming proteins
(
- Contribution to journal › Article
-
Mark
Consequences of partially recessive deleterious genetic variation for the evolution of inversions suppressing recombination between sex chromosomes
(
- Contribution to journal › Article
-
Mark
DDR1/2 enhance KIT activation and imatinib resistance of primary and secondary KIT mutants in gastrointestinal stromal tumors
(
- Contribution to journal › Article
- 2023
-
Mark
VariBench, new variation benchmark categories and data sets
(
- Contribution to journal › Article
-
Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
(
- Contribution to journal › Article
-
Mark
The role of fibrinolysis in vascular diseases in UK biobank
(
- Contribution to journal › Letter
-
Mark
Ivacaftor therapy post myocardial infarction augments systemic inflammation and evokes contrasting effects with respect to tissue inflammation in brain and lung
(
- Contribution to journal › Article
-
Mark
Dysregulated Lipid Synthesis by Oncogenic IDH1 Mutation Is a Targetable Synthetic Lethal Vulnerability
(
- Contribution to journal › Article
-
Mark
The Swedish childhood tumor biobank : systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden
(
- Contribution to journal › Article
-
Mark
A Receptor Tyrosine Kinase Inhibitor Sensitivity Prediction Model Identifies AXL Dependency in Leukemia
(
- Contribution to journal › Article
-
Mark
Genomic studies of sex differences : On mutations, recombination, and sexual antagonism in songbirds
2023)(
- Thesis › Doctoral thesis (compilation)
-
Mark
Systematic errors in annotations of truncations, loss-of-function and synonymous variants
(
- Contribution to journal › Article
-
Mark
Contribution of rare and common coding variants to haematological malignancies in the UK biobank
(
- Contribution to journal › Article
-
Mark
Rare-variant collapsing analyses reveal novel risk genes for arterial and venous cardiovascular diseases in the UK biobank
(
- Contribution to journal › Letter
-
Mark
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
(
- Contribution to journal › Article
- 2022
-
Mark
Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells
(
- Contribution to journal › Article
-
Mark
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival
(
- Contribution to journal › Article
-
Mark
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
-
Mark
PON-All : Amino Acid Substitution Tolerance Predictor for All Organisms
(
- Contribution to journal › Article
-
Mark
Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS-IPS study
(
- Contribution to journal › Article
- 2021
-
Mark
Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently
(
- Contribution to journal › Article
-
Mark
Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer
(
- Contribution to journal › Article
-
Mark
RNA Sequencing for Molecular Diagnostics in Breast Cancer
2021) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Functional effects of protein variants
(
- Contribution to journal › Article
-
Mark
DGAT-onco : A differential analysis method to detect oncogenes by integrating functional information of mutations
2021) 2021 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2021 In Proceedings - 2021 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2021 p.793-796(
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
-
Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
-
Mark
The Human Melanoma Proteome Atlas-Complementing the melanoma transcriptome
(
- Contribution to journal › Article
-
Mark
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity
(
- Contribution to journal › Article
-
Mark
Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
(
- Contribution to journal › Article
-
Mark
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease : Insights From Functional Genomics and Large-Scale Sequencing Analyses
(
- Contribution to journal › Article
-
Mark
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
(
- Contribution to journal › Article
- 2020
-
Mark
Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma
(
- Contribution to journal › Article
-
Mark
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
(
- Contribution to journal › Article
-
Mark
Protein-altering germline mutations implicate novel genes related to lung cancer development
(
- Contribution to journal › Article
-
Mark
The mutational landscape of the SCAN‐B real‐world primary breast cancer transcriptome
(
- Contribution to journal › Article
-
Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
(
- Contribution to journal › Article
-
Mark
SSD1 modifies phenotypes of Elongator mutants
(
- Contribution to journal › Scientific review
-
Mark
Comprehensive molecular characterization of mitochondrial genomes in human cancers
(
- Contribution to journal › Article
-
Mark
The landscape of viral associations in human cancers
(
- Contribution to journal › Article
-
Mark
Genomic footprints of activated telomere maintenance mechanisms in cancer
(
- Contribution to journal › Article
-
Mark
Combined burden and functional impact tests for cancer driver discovery using DriverPower
(
- Contribution to journal › Article
-
Mark
Divergent mutational processes distinguish hypoxic and normoxic tumours
(
- Contribution to journal › Article
-
Mark
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
(
- Contribution to journal › Article
-
Mark
Integrative pathway enrichment analysis of multivariate omics data
(
- Contribution to journal › Article
-
Mark
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
(
- Contribution to journal › Article
-
Mark
Pathway and network analysis of more than 2500 whole cancer genomes
(
- Contribution to journal › Article
-
Mark
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
(
- Contribution to journal › Article
- 2019
-
Mark
Sub-lethal concentrations of heavy metals induce antibiotic resistance via mutagenesis
(
- Contribution to journal › Article
-
Mark
Patterns of hepatitis B virus S gene escape mutants and reverse transcriptase mutations among genotype D isolates in Jordan
(
- Contribution to journal › Article
-
Mark
Challenging the heterogeneity of disease presentation in malignant melanoma—impact on patient treatment
(
- Contribution to journal › Article
-
Mark
Benchmarking subcellular localization and variant tolerance predictors on membrane proteins
(
- Contribution to journal › Article
-
Mark
Dissecting the Effects of Selection and Mutation on Genetic Diversity in Three Wood White (Leptidea) Butterfly Species
(
- Contribution to journal › Article
-
Mark
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
(
- Contribution to journal › Article
- 2018
-
Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
-
Mark
Pon-tstab : Protein variant stability predictor. importance of training data quality
(
- Contribution to journal › Article
-
Mark
Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers with Normal QTc Interval : The Value of Sex, T-Wave Morphology, and Mutation Type
(
- Contribution to journal › Article
-
Mark
Systematics for types and effects of DNA variations
(
- Contribution to journal › Scientific review
-
Mark
Representativeness of variation benchmark datasets
(
- Contribution to journal › Article
-
Mark
Analysis of C3 gene variants in patients with idiopathic recurrent spontaneous pregnancy loss
(
- Contribution to journal › Article
-
Mark
Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients
(
- Contribution to journal › Article
-
Mark
Identification of factors that promote biogenesis of tRNACGASer
(
- Contribution to journal › Article
- 2017
-
Mark
PBB3 Imaging in Parkinsonian disorders: Evidence for binding to abnormally aggregated proteins in addition to tau proteins
2017) 21st International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 32(Suppl 2). p.585-587(
- Contribution to journal › Published meeting abstract
-
Mark
BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation
(
- Contribution to journal › Article
-
Mark
Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer
(
- Contribution to journal › Article
-
Mark
Strategies to design clinical studies to identify predictive biomarkers in cancer research
(
- Contribution to journal › Scientific review
- 2016
-
Mark
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
(
- Contribution to journal › Article
-
Mark
MLH1 Ile219Val polymorphism in argentinean families with suspected lynch syndrome
(
- Contribution to journal › Article
-
Mark
Establishment of an international database for genetic variants in esophageal cancer
(
- Contribution to journal › Article
-
Mark
Pedigree based DNA sequencing pipeline for germline genomes of cancer families
(
- Contribution to journal › Article
-
Mark
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
(
- Contribution to journal › Article
-
Mark
Association of Exome Sequences with Cardiovascular Traits among Blacks in the Jackson Heart Study
(
- Contribution to journal › Article
-
Mark
High hyperdiploid childhood acute lymphoblastic leukemia : Chromosomal gains as the main driver event
(
- Contribution to journal › Article
-
Mark
18F-AV1451 pet detects tau pathology in mapt mutation carriers and correlates strongly with immunohistochemistry of tau aggregates
2016) Alzheimer’s Association International Conference 2016 In Alzheimer's and Dementia 12(7 Suppl). p.723-724(
- Contribution to journal › Published meeting abstract
-
Mark
Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: Raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ART
(
- Contribution to journal › Article
- 2015
-
Mark
One-stage vs. chromogenic assays in haemophilia A
(
- Contribution to journal › Scientific review
-
Mark
Genetic risk factors for inhibitors in haemophilia A
(
- Contribution to journal › Scientific review
-
Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article
-
Mark
Loss of Drosophila Vps16A enhances autophagosome formation through reduced Tor activity
(
- Contribution to journal › Article
-
Mark
Identification of a novel DNase of Streptococcus suis (EndAsuis) important for neutrophil extracellular trap degradation during exponential growth
(
- Contribution to journal › Article
-
Mark
Exome sequencing of contralateral breast cancer identifies metastatic disease
(
- Contribution to journal › Article
-
Mark
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation
(
- Contribution to journal › Article
-
Mark
Serum biomarkers of early stages of hypertrophic cardiomyopathy in a young population
(
- Contribution to journal › Published meeting abstract
-
Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
(
- Contribution to journal › Article
- 2014
-
Mark
Associations of anthropometric factors with KRAS and BRAF mutation status of primary colorectal cancer in men and women : a cohort study
(
- Contribution to journal › Article
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
-
Mark
Interaction of the HOPS complex with Syntaxin 17 mediates autophagosome clearance in Drosophila
(
- Contribution to journal › Article
-
Mark
Different effects of Atg2 and Atg18 mutations on Atg8a and Atg9 trafficking during starvation in Drosophila
(
- Contribution to journal › Article
-
Mark
Mutant huntingtin is present in neuronal grafts in Huntington disease patients
(
- Contribution to journal › Article
-
Mark
The interaction between uPAR and vitronectin triggers ligand-independent adhesion signalling by integrins
(
- Contribution to journal › Article
-
Mark
The mitochondrial protein import component, TRANSLOCASE OF THE INNER MEMBRANE17-1, plays a role in defining the timing of germination in Arabidopsis
(
- Contribution to journal › Article
-
Mark
The mitochondrial outer membrane AAA ATPase AtOM66 affects cell death and pathogen resistance in Arabidopsis thaliana
(
- Contribution to journal › Article
-
Mark
The 'extremely ancient' chromosome that isn't : a forensic bioinformatic investigation of Albert Perry's X-degenerate portion of the Y chromosome
(
- Contribution to journal › Article
-
Mark
CDKN2A-mutation hos en familie med arveligt malignt melanom
(
- Contribution to journal › Article
-
Mark
Comprehensive genetic characterization of pediatric T-cell acute lymphoblastic leukemia
(
- Contribution to journal › Published meeting abstract
-
Mark
Neuroacanthocytosis - Clinical variability (a report on six cases)
2014) Eighteenth International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 29(Suppl 1). p.194-194(
- Contribution to journal › Published meeting abstract
-
Mark
Triggering necroptosis in cisplatin and IAP antagonist-resistant ovarian carcinoma
(
- Contribution to journal › Article
-
Mark
A conserved proline triplet in Val-tRNA synthetase and the origin of elongation factor P
(
- Contribution to journal › Article
-
Mark
Proteolytic activation of the human epithelial sodium channel by trypsin IV and trypsin I involves distinct cleavage sites
(
- Contribution to journal › Article
-
Mark
Mitochondrial D-loop and cytochrome oxidase C subunit I polymorphisms among the breast cancer patients of Mizoram, Northeast India
(
- Contribution to journal › Article
-
Mark
The Ycf54 protein is part of the membrane component of Mg-protoporphyrin IX monomethyl ester cyclase from barley (Hordeum vulgare L.)
(
- Contribution to journal › Article
- 2013
-
Mark
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases
(
- Contribution to journal › Article
-
Mark
VariBench: A Benchmark Database for Variations
(
- Contribution to journal › Article
-
Mark
Origin of Swedish hemophilia B mutations
(
- Contribution to journal › Article
-
Mark
Association of estrogen receptor-alpha A908G (K303R) mutation with breast cancer risk
(
- Contribution to journal › Article
-
Mark
Mutation spectrum in South American Lynch syndrome families
(
- Contribution to journal › Article
-
Mark
Myc-driven overgrowth requires unfolded protein response-mediated induction of autophagy and antioxidant responses in Drosophila melanogaster
(
- Contribution to journal › Article
-
Mark
Autophagosomal Syntaxin17-dependent lysosomal degradation maintains neuronal function in Drosophila
(
- Contribution to journal › Article
-
Mark
Arkadia regulates tumor metastasis by modulation of the TGF-β pathway
(
- Contribution to journal › Article
-
Mark
Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders : an overview study
(
- Contribution to journal › Article
-
Mark
A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss
(
- Contribution to journal › Article
-
Mark
The membrane-bound NAC transcription factor ANAC013 functions in mitochondrial retrograde regulation of the oxidative stress response in Arabidopsis
(
- Contribution to journal › Article
-
Mark
A membrane-bound NAC transcription factor, ANAC017, mediates mitochondrial retrograde signaling in Arabidopsis
(
- Contribution to journal › Article
-
Mark
Rare allelic forms of PRDM9 associated with childhood leukemogenesis
(
- Contribution to journal › Article
-
Mark
GNAL mutations cause adult-onset primary dystonia
(
- Contribution to journal › Published meeting abstract
-
Mark
Crystal structure of Na+, K(+)-ATPase in the Na(+)-bound state
(
- Contribution to journal › Article
-
Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
-
Mark
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation
(
- Contribution to journal › Article
-
Mark
The pre-mRNA retention and splicing complex controls tRNA maturation by promoting TAN1 expression
(
- Contribution to journal › Article
-
Mark
mTORC1 inhibition is required for sensitivity to PI3K p110α inhibitors in PIK3CA-mutant breast cancer
(
- Contribution to journal › Article
- 2012
-
Mark
Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events Implications for Mutation-Specific Response to beta-Blocker Therapy in Type 1 Long-QT Syndrome
(
- Contribution to journal › Article
-
Mark
The challenge of NSCLC diagnosis and predictive analysis on small samples. Practical approach of a working group
(
- Contribution to journal › Scientific review
-
Mark
Asexuals, Polyploids, Evolutionary Opportunists ...: The Population Genetics of Positive but Deteriorating Mutations.
(
- Contribution to journal › Article
-
Mark
Origin of Swedish hemophilia A mutations
(
- Contribution to journal › Article
-
Mark
Advantages and limitations of different p62-based assays for estimating autophagic activity in Drosophila
(
- Contribution to journal › Article
-
Mark
A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease
(
- Contribution to journal › Article
-
Mark
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Hydrolases as Catalysts for Green Chemistry and Industrial Applications - Esterase, Lipase and Phytase
2012)(
- Thesis › Doctoral thesis (compilation)
-
Mark
Friedreich's ataxia in patients with FXN p.R165P point mutation
2012) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) In European Journal of Neurology 19(Suppl 1). p.727-727(
- Contribution to journal › Published meeting abstract
-
Mark
On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis
(
- Contribution to journal › Article
-
Mark
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
(
- Contribution to journal › Article
- 2011
-
Mark
Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities
(
- Contribution to journal › Article
-
Mark
Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals
(
- Contribution to journal › Article
-
Mark
Exploring the link between MORF4L1 and risk of breast cancer
(
- Contribution to journal › Article
-
Mark
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis
(
- Contribution to journal › Article
-
Mark
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
(
- Contribution to journal › Article
-
Mark
IDH1 and IDH2 mutations in pediatric acute leukemia
(
- Contribution to journal › Article
-
Mark
The transcription factor EMISSION OF BENZENOIDS II activates the MYB ODORANT1 promoter at a MYB binding site specific for fragrant petunias
(
- Contribution to journal › Article
-
Mark
rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells
(
- Contribution to journal › Article
-
Mark
Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations
(
- Contribution to journal › Article
- 2010
-
Mark
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
(
- Contribution to journal › Article
-
Mark
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction
(
- Contribution to journal › Article
-
Mark
Novel APC-cleavage sites in FVa providing insights into mechanisms of action of APC and its cofactor protein S.
(
- Contribution to journal › Article
-
Mark
Bedside Diagnosis of Rippling Muscle Disease in Cav3 P.A46T Mutation Carriers
(
- Contribution to journal › Article
-
Mark
A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder
(
- Contribution to journal › Article
-
Mark
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
(
- Contribution to journal › Article
-
Mark
Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis
(
- Contribution to journal › Article
- 2009
-
Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
The barley magnesium chelatase 150-kd subunit is not an abscisic acid receptor
(
- Contribution to journal › Article
-
Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
(
- Contribution to journal › Scientific review
-
Mark
PPARdelta mediates IL15 metabolic actions in myotubes : effects of hyperthermia
(
- Contribution to journal › Article
-
Mark
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome
(
- Contribution to journal › Article
-
Mark
The carcinogenic air pollutant 3-nitrobenzanthrone induces GC to TA transversion mutations in human p53 sequences
(
- Contribution to journal › Article
-
Mark
Insulin regulates fusion of GLUT4 vesicles independent of Exo70-mediated tethering
(
- Contribution to journal › Article
- 2008
-
Mark
Genetic characterization of families with von Willebrand disease
(
- Thesis › Doctoral thesis (compilation)
-
Mark
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria
(
- Contribution to journal › Article
-
Mark
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
(
- Contribution to journal › Article
-
Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article
-
Mark
Role of homologous recombination in trabectedin-induced DNA damage
(
- Contribution to journal › Article
-
Mark
Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations : a case-control study
(
- Contribution to journal › Article
- 2007
-
Mark
Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.
(
- Contribution to journal › Article
-
Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
(
- Contribution to journal › Article
-
Mark
Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.
(
- Contribution to journal › Article
-
Mark
C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations
(
- Contribution to journal › Article
-
Mark
Confirmation of a BRAF mutation-associated gene expression signature in melanoma
(
- Contribution to journal › Article
-
Mark
The genetics of congenital heart disease : a review of recent developments
(
- Contribution to journal › Scientific review
-
Mark
Identification, expression, and functional analyses of a thylakoid ATP/ADP carrier from Arabidopsis
(
- Contribution to journal › Article
-
Mark
MafB is required for islet beta cell maturation
2007) In Proceedings of the National Academy of Sciences of the United States of America 104(10). p.8-3853(
- Contribution to journal › Article
-
Mark
Mg(2+) signalling defines the group A streptococcal CsrRS (CovRS) regulon
(
- Contribution to journal › Article
-
Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
-
Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
- 2006
-
Mark
A common origin of the 4143insA ADAMTS13 mutation
(
- Contribution to journal › Article
-
Mark
Genetics of diabetic subtypes
2006)(
- Thesis › Doctoral thesis (compilation)
-
Mark
HpaA is essential for Helicobacter pylori colonization in mice
(
- Contribution to journal › Article
-
Mark
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts
(
- Contribution to journal › Article
-
Mark
Capsule does not block antibody binding to PspA, a surface virulence protein of Streptococcus pneumoniae
(
- Contribution to journal › Article
-
Mark
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation
(
- Contribution to journal › Article
-
Mark
Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis
(
- Contribution to journal › Article
- 2005
-
Mark
Identification of promoter elements in 5'-flanking region of murine cyclic nucleotide phosphodiesterase 3B gene
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis
(
- Contribution to journal › Article
-
Mark
Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses)
(
- Contribution to journal › Article
-
Mark
Large deletions of the PROS1 gene in a large fraction of mutationnegative patients with protein S deficiency
(
- Contribution to journal › Article
-
Mark
Heparan sulphate proteoglycans: the sweet side of development.
(
- Contribution to journal › Scientific review
-
Mark
Size of the protein-coding genome and rate of molecular evolution
(
- Contribution to journal › Article
-
Mark
PTPN11 mutations play a minor role in isolated congenital heart disease
(
- Contribution to journal › Article
-
Mark
Abortive translation caused by peptidyl-tRNA drop-off at NGG codons in the early coding region of mRNA
(
- Contribution to journal › Article
-
Mark
Cytolysin-dependent evasion of lysosomal killing
(
- Contribution to journal › Article
-
Mark
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts
(
- Contribution to journal › Article
-
Mark
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
(
- Contribution to journal › Article
-
Mark
An early step in wobble uridine tRNA modification requires the Elongator complex
(
- Contribution to journal › Article
- 2004
-
Mark
BRCA2 mutations in 154 Finnish male breast cancer patients
(
- Contribution to journal › Article
-
Mark
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations : results of a prospective study in Southern Sweden
(
- Contribution to journal › Article
-
Mark
Microarray expression profiling in melanoma reveals a BRAF mutation signature
(
- Contribution to journal › Article
-
Mark
BRCA1 och BRCA2 har nått kliniken. Tioårigt fynd av genmutation ger nu möjlighet förebygga ärftlig bröstcan
(
- Contribution to journal › Article
-
Mark
Characterization of eight barley xantha-f mutants deficient in magnesium chelatase
(
- Contribution to journal › Article
-
Mark
APECED-causing mutations in AIRE reveal the functional domains of the protein.
(
- Contribution to journal › Article
-
Mark
The Saccharomyces cerevisiae TAN1 gene is required for N4-acetylcytidine formation in tRNA
(
- Contribution to journal › Article
- 2003
-
Mark
Prevalence of hemochromatosis gene (HFE) mutations in Greece
(
- Contribution to journal › Article
-
Mark
Factor VI359T: a novel mutation associated with thrombosis and resistance to activated protein C
(
- Contribution to journal › Article
-
Mark
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
(
- Contribution to journal › Article
-
Mark
Phosphorylation of the potyvirus capsid protein by protein kinase CK2 and its relevance for virus infection.
(
- Contribution to journal › Article
-
Mark
Dysfunctionality of a tobacco mosaic virus movement protein mutant mimicking threonine 104 phosphorylation.
(
- Contribution to journal › Article
-
Mark
The Journal of Gene Medicine 2002 Young Investigator Award. European Society of Gene Therapy
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Temperature-controlled structural alterations of an RNA thermometer
(
- Contribution to journal › Article
-
Mark
Functional split and crosslinking of the membrane domain of the beta subunit of proton-translocating transhydrogenase from Escherichia coli
(
- Contribution to journal › Article
- 2002
-
Mark
Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families
(
- Contribution to journal › Article
-
Mark
Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.
(
- Contribution to journal › Article
-
Mark
TP53 protein expression analysis by luminometric immunoassay in comparison with gene mutation status and prognostic factors in early stage endometrial cancer
(
- Contribution to journal › Article
-
Mark
Uneven distribution of repetitive trinucleotide motifs in human immunoglobulin heavy variable genes
(
- Contribution to journal › Article
-
Mark
Improving the pathogenicity of a nematode-trapping fungus by genetic engineering of a subtilisin with nematotoxic activity.
(
- Contribution to journal › Article
-
Mark
Predictors of deterioration of lung function in cystic fibrosis.
(
- Contribution to journal › Article
-
Mark
Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
(
- Contribution to journal › Article
-
Mark
A peptide methionine sulfoxide reductase highly expressed in photosynthetic tissue in Arabidopsis thaliana can protect the chaperone-like activity of a chloroplast-localized small heat shock protein.
(
- Contribution to journal › Article
-
Mark
Genetic variability in hepatitis B viruses.
(
- Contribution to journal › Scientific review
-
Mark
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
(
- Contribution to journal › Article
-
Mark
Cytogenetic aberrations and heterogeneity of mutations in repeat-containing genes in a colon carcinoma from a patient with hereditary nonpolyposis colorectal cancer.
(
- Contribution to journal › Article
-
Mark
Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.
(
- Contribution to journal › Article
-
Mark
Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene
(
- Contribution to journal › Article
-
Mark
The fundamental prevalence of chronic myeloid leukemia-generating clonogenic cells in the light of the neutrality theory of evolution
(
- Contribution to journal › Article
-
Mark
Improved partitioning in aqueous two-phase system of tyrosine-tagged recombinant lactate dehydrogenase
(
- Contribution to journal › Article
-
Mark
Hepatitis B virus infection and genomic changes from a long-term perspective
2002)(
- Thesis › Doctoral thesis (compilation)
-
Mark
Malignant Melanoma in southern Sweden; Histopathology, Prognosis and Aetiology
2002)(
- Thesis › Doctoral thesis (compilation)
- 2001
-
Mark
Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity
(
- Contribution to journal › Article
-
Mark
Cytogenetic and fluorescence in situ hybridization characterization of chromosome 8 rearrangements in head and neck squamous cell carcinomas
(
- Contribution to journal › Article
-
Mark
Assembly of tapasin-associated MHC class I in the absence of the transporter associated with antigen processing (TAP)
(
- Contribution to journal › Article
-
Mark
A hypothesis about tumour development and the clinical features of hereditary breast cancers
(
- Contribution to journal › Article
-
Mark
Molecular Genetic Alterations In Endometrial And Ovarian Cancers
2001)(
- Thesis › Doctoral thesis (compilation)
-
Mark
Recombinant expression of N-terminal truncated mutants of the membrane bound mouse, rat and human flavoenzyme dihydroorotate dehydrogenase. : A versatile tool to rate inhibitor effects?
(
- Contribution to journal › Article
- 2000
-
Mark
Fusidic acid-resistant EF-G perturbs the accumulation of ppGpp
(
- Contribution to journal › Article
-
Mark
Error-prone PCR of Vitreoscilla hemoglobin (VHb) to support the growth of microaerobic Escherichia coli
(
- Contribution to journal › Article
-
Mark
High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families
(
- Contribution to journal › Article
-
Mark
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering time
(
- Contribution to journal › Article
-
Mark
A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions
(
- Contribution to journal › Article
-
Mark
Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage
(
- Contribution to journal › Article
-
Mark
Hereditary cystatin C amyloid angiopathy
(
- Contribution to journal › Scientific review
-
Mark
Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity
(
- Contribution to journal › Article
- 1999
-
Mark
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
(
- Contribution to journal › Article
-
Mark
Factor V Q506 (resistance to activated protein C) and prognosis after acute coronary syndrome
(
- Contribution to journal › Article
-
Mark
Origin of mutation in sporadic cases of haemophilia A
(
- Contribution to journal › Article
-
Mark
Cancer risks in BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study).
1999)(
- Thesis › Doctoral thesis (compilation)
-
Mark
Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia
1999)(
- Thesis › Doctoral thesis (compilation)
-
Mark
Search for MODY and Type 2 diabetes genes
1999)(
- Thesis › Doctoral thesis (compilation)
- 1998
-
Mark
Analysis of Swedish male breast cancer family data : a simple way to incorporate a common sibling effect
(
- Contribution to journal › Article
-
Mark
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response
(
- Contribution to journal › Article
-
Mark
BRCA1-positive patients are small for gestational age compared with their unaffected relatives
(
- Contribution to journal › Article
-
Mark
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system
(
- Contribution to journal › Article