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- 2009
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Mark
ISCN (2009): Important revisions and new additions to molecular methods for copy number detection for cytogenetic analysis
(
- Contribution to journal › Published meeting abstract
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Mark
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
(
- Contribution to journal › Article
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Mark
Dose Optimization for Long-term rAAV-mediated RNA Interference in the Nigrostriatal Projection Neurons.
(
- Contribution to journal › Article
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Mark
Tissue-specific alternative splicing of TCF7L2
(
- Contribution to journal › Article
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Mark
A Recombinant Adenovirus Type 35 Fiber Knob Protein Sensitizes Lymphoma Cells to Rituximab Therapy
2009) 12th Annual Meeting of the American Society of Gene Therapy In Molecular Therapy 17. p.240-240(
- Contribution to journal › Published meeting abstract
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Mark
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
(
- Contribution to journal › Article
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Mark
Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors
(
- Contribution to journal › Article
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Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
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Mark
Mitochondrial and chromosomal genomics in type 2 diabetes
(
- Thesis › Doctoral thesis (compilation)
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Mark
Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus
(
- Contribution to journal › Article
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Mark
Comparison of cisplatin sensitivity and the 18F fluoro-2-deoxy 2 glucose uptake with proliferation parameters and gene expression in squamous cell carcinoma cell lines of the head and neck
(
- Contribution to journal › Article
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Mark
Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels
(
- Contribution to journal › Article
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Mark
An investigation of ribosomal protein L10 gene in autism spectrum disorders
(
- Contribution to journal › Article
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Mark
Clonal chromosome aberrations in a sialoblastoma
(
- Contribution to journal › Letter
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Mark
Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union
(
- Contribution to journal › Article
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Mark
Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia
(
- Thesis › Doctoral thesis (compilation)
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Mark
Bone Marrow Multipotent Mesenchymal Stroma Cells Act as Pericyte-like Migratory Vehicles in Experimental Gliomas.
(
- Contribution to journal › Article
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Mark
High-resolution imaging of mitotic instability
(
- Contribution to journal › Published meeting abstract
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Mark
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
(
- Contribution to journal › Article
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Mark
HIF-2 alpha maintains an undifferentiated state in neural crest-like human neuroblastoma tumor-initiating cells
(
- Contribution to journal › Article
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Mark
Mother's Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth
(
- Contribution to journal › Article
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Mark
Cancer Chromosomes: From Meaningless Noise to Proof of Principle.
(
- Contribution to journal › Published meeting abstract
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Mark
Genetic Regulation of Bone Traits Is Influenced by Sex and Reciprocal Cross in F-2 Progeny From GK and F344 Rats
(
- Contribution to journal › Article
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Mark
Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.
(
- Contribution to journal › Article
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Mark
Telomere length in neuroblastoma: a prognostic factor?
(
- Contribution to journal › Published meeting abstract
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Mark
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
(
- Contribution to journal › Article
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Mark
Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs
(
- Contribution to journal › Article
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Mark
Cytogenetic Analysis of 101 Giant Cell Tumors of Bone: Nonrandom Patterns of Telomeric Associations and Other Structural Aberrations
(
- Contribution to journal › Article
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Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Tolerance Induction Using Lentiviral Gene Delivery Delays Onset and Severity of Collagen II Arthritis
(
- Contribution to journal › Article
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Mark
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours
(
- Contribution to journal › Article
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Mark
Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus
(
- Contribution to journal › Article
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Mark
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects
(
- Contribution to journal › Article
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Mark
Crystal structure of a 1.6-hexanediol bound tetrameric form of Escherichia coli lac-repressor refined to 2.1 A resolution.
(
- Contribution to journal › Article
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Mark
Characterization of the human CREB3L2 gene promoter
(
- Contribution to journal › Article
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Mark
Bioinformatics services related to diagnosis of primary immunodeficiencies.
(
- Contribution to journal › Scientific review
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Mark
Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer.
(
- Contribution to journal › Letter
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Mark
Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone.
(
- Contribution to journal › Article
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Mark
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
(
- Contribution to journal › Article
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Mark
Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies.
(
- Contribution to journal › Article
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Mark
Problems with anti-plagiarism database.
(
- Contribution to journal › Letter
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Mark
Evaluation of accuracy and applicability of protein models: retrospective analysis of biological and biomedical predictions.
(
- Contribution to journal › Article
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Mark
Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: Rare T-cell receptor gene rearrangements are associated with poor outcome.
(
- Contribution to journal › Article
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Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article
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Mark
Sharing data between LSDBs and central repositories.
(
- Contribution to journal › Article
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Mark
High hyperdiploid childhood acute lymphoblastic leukemia.
(
- Contribution to journal › Article
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Mark
Comparative sequence analysis of the non-protein-coding mitochondrial DNA of inbred rat strains.
(
- Contribution to journal › Article
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Mark
Translocation-related sarcomas.
(
- Contribution to journal › Article
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Mark
A novel mutation in CD40 and its functional characterization.
(
- Contribution to journal › Article
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Mark
The DNA methylome of pediatric acute lymphoblastic leukemia.
(
- Contribution to journal › Article
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Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
(
- Contribution to journal › Scientific review
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Mark
Bidirectionality and transcriptional activity of the EWSR1 promoter region
(
- Contribution to journal › Article
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Mark
Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions
(
- Contribution to journal › Article
- 2008
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Mark
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
(
- Contribution to journal › Article
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Mark
EuroGentest: DNA-based testing for heritable disorders in Europe
(
- Contribution to journal › Article
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Mark
Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors
(
- Contribution to journal › Article
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Mark
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
(
- Contribution to journal › Article
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Mark
Gene expression analysis of BCR/ABL1-dependent transcriptional response reveals enrichment for genes involved in negative feedback regulation.
(
- Contribution to journal › Article
-
Mark
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease
(
- Contribution to journal › Article
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Mark
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
(
- Contribution to journal › Article
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Mark
Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale
(
- Contribution to journal › Article
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Mark
Genetics in clinical practice: general practitioners' educational priorities in European countries
(
- Contribution to journal › Article
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Mark
The Fatty Acid Amide Hydrolase (FAAH) Pro129Thr Polymorphism is not Associated with Severe Obesity in Greek Subjects
(
- Contribution to journal › Article
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Mark
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
(
- Contribution to journal › Article
-
Mark
The FLT3 inhibitor PKC412 in combination with cytostatic drugs in vitro in acute myeloid leukemia
(
- Contribution to journal › Article
-
Mark
CANCER-RELATED GENE REGULATION MECHANISMS
(
- Thesis › Doctoral thesis (compilation)
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Mark
Fusion of the COL1A1 and USP6 genes in a benign bone tumor.
(
- Contribution to journal › Article
-
Mark
Neonatal hematopoietic stem cell transplantation following low-dose busulphan conditioning reverses osteopetrosis and preserves vision in oc/oc mice
2008) 16th Annual Congress of the European-Society-of-Gene-and-Cell-Therapy In Human Gene Therapy 19(10). p.1183-1184(
- Contribution to journal › Published meeting abstract
-
Mark
An improved method for detecting and delineating genomic regions with altered gene expression in cancer
(
- Contribution to journal › Article
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Mark
Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
(
- Thesis › Doctoral thesis (monograph)
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Mark
Models from experiments: combinatorial drug perturbations of cancer cells
(
- Contribution to journal › Article
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Mark
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
(
- Contribution to journal › Article
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Mark
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
(
- Contribution to journal › Article
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Mark
Compression algorithm for pre-simulated Monte Carlo p-value functions: Application to the ontological analysis of microarray studies
(
- Contribution to journal › Article
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Mark
Glial Progenitor-Like Phenotype in Low-Grade Glioma and Enhanced CD133-Expression and Neuronal Lineage Differentiation Potential in High-Grade Glioma
(
- Contribution to journal › Article
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Mark
Molecular screening for new fusion genes in cancer
(
- Contribution to journal › Debate/Note/Editorial
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Mark
The hypermethylome of pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Published meeting abstract
-
Mark
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72
(
- Contribution to journal › Article
-
Mark
Array based genetic profiling of bone and soft tissue tumors
(
- Thesis › Doctoral thesis (compilation)
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Mark
Detection of a t(1;22)(q23;q 12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma
(
- Contribution to journal › Article
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Mark
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
(
- Contribution to journal › Article
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Mark
The effect of pedigree structure on detection of deletions and other null alleles.
(
- Contribution to journal › Article
-
Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article
-
Mark
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives
(
- Contribution to journal › Article
-
Mark
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
(
- Contribution to journal › Article
-
Mark
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus
(
- Contribution to journal › Article
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Mark
Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males
(
- Contribution to journal › Article
-
Mark
Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure
(
- Contribution to journal › Article
-
Mark
Positional cloning of the Igl genes controlling rheumatoid factor production and allergic bronchitis in rats
(
- Contribution to journal › Article
-
Mark
Deep-seated ordinary and atypical lipomas - Histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wall
(
- Contribution to journal › Article
-
Mark
Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
(
- Contribution to journal › Scientific review
-
Mark
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis
(
- Contribution to journal › Article
-
Mark
Characterization and Genetic Mapping of Bone Size Phenotypes in GK and F344 Rats Using a New 3D CT Method.
2008) 30th Annual Meeting of the American-Society-for-Bone-and-Mineral-Research In Journal of Bone and Mineral Research 23. p.492-492(
- Contribution to journal › Published meeting abstract
-
Mark
What is ideal genetic counselling? A survey of current international guidelines
(
- Contribution to journal › Article
-
Mark
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
(
- Contribution to journal › Article
-
Mark
Strategies for Conditional Two-Locus Nonparametric Linkage Analysis.
(
- Contribution to journal › Article
-
Mark
Increased sensitivity to bleomycin in upper aerodigestive tract mucosa of head and neck squamous cell carcinoma patients.
(
- Contribution to journal › Article
-
Mark
FLT3 mutations in a 10 year consecutive series of 177 childhood acute leukemias and their impact on global gene expression patterns.
(
- Contribution to journal › Article
-
Mark
When the genome plays dice: circumvention of the spindle assembly checkpoint and near-random chromosome segregation in multipolar cancer cell mitoses.
(
- Contribution to journal › Article