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- 2024
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Mark
Malignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare
(
- Contribution to journal › Article
- 2022
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Mark
Implementing precision medicine in a regionally organized healthcare system in Sweden
(
- Contribution to journal › Letter
- 2020
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Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
(
- Contribution to journal › Article
- 2019
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Mark
A stroke gene panel for whole-exome sequencing
(
- Contribution to journal › Article
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Mark
Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
(
- Contribution to journal › Article
- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
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Mark
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
(
- Contribution to journal › Article
- 2016
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Mark
Familial aggregation of stroke amongst young patients in Lund Stroke Register.
(
- Contribution to journal › Article
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Mark
The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement
(
- Contribution to journal › Article
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Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
(
- Contribution to journal › Article
- 2015
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Mark
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
(
- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
(
- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
-
Mark
The gynecological surveillance of women with Lynch syndrome in Sweden.
(
- Contribution to journal › Article
-
Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
(
- Contribution to journal › Article
- 2014
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Mark
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
(
- Contribution to journal › Article
-
Mark
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
(
- Contribution to journal › Article
- 2013
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Mark
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
(
- Contribution to journal › Article
- 2012
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Mark
Relation between smoking history and gene expression profiles in lung adenocarcinomas
(
- Contribution to journal › Article
-
Mark
Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
(
- Contribution to journal › Article
-
Mark
Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
2012) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 21(4). p.645-657(
- Contribution to journal › Article
-
Mark
Friedreich ataxia in patients with FXN p.R165P point mutation.
(
- Contribution to journal › Published meeting abstract
-
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
- 2011
-
Mark
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
(
- Contribution to journal › Article
-
Mark
Mutation Update for the PORCN Gene
(
- Contribution to journal › Article
- 2010
-
Mark
HIF1 alpha isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation
(
- Contribution to journal › Article
-
Mark
How to Handle Genetic Information: A Comparison of Attitudes among Patients and the General Population
(
- Contribution to journal › Article
-
Mark
Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
(
- Contribution to journal › Article
-
Mark
dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.
(
- Contribution to journal › Article
-
Mark
Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
(
- Contribution to journal › Scientific review
- 2009
-
Mark
The expression of pluripotency marker Oct 3/4 in prostate cancer and benign prostate hyperplasia.
(
- Contribution to journal › Article
-
Mark
False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2.
(
- Contribution to journal › Article
- 2008
-
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
Female haemophilia A caused by skewed X inactivation
(
- Contribution to journal › Letter
-
Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article
-
Mark
Characterization Of Non-Small Cell Lung Cancer Using Tiling Resolution Bacterial Artificial Chromosome Microarrays
(
- Contribution to journal › Published meeting abstract
-
Mark
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
(
- Contribution to journal › Article
-
Mark
Delection of the SCN gene cluster on 2q24.4 is associated with severe epilepsy an array-based genotype-phenotype correlation and a comprehensive review of previously published area
(
- Contribution to journal › Article
- 2007
-
Mark
Discrepancies between estimated and perceived risk of cancer among individuals with hereditary nonpolyposis colorectal cancer
(
- Contribution to journal › Article
-
Mark
Cytogenetic findings in pediatric renal cell carcinoma
(
- Contribution to journal › Article
- 2006
-
Mark
Confirmation of the high frequency of the TMPRSS2/ERG fusion gene in prostate cancer.
(
- Contribution to journal › Letter
-
Mark
Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy
(
- Contribution to journal › Article
- 2004
-
Mark
A model for karyotypic evolution in testicular germ cell tumors.
(
- Contribution to journal › Article
-
Mark
Dissecting karyotypic patterns in renal cell carcinoma: an analysis of the accumulated cytogenetic data.
(
- Contribution to journal › Article
- 2003
-
Mark
Cytogenetic findings and clinical course in a consecutive series of Wilms tumors
(
- Contribution to journal › Article