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- 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
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
(
- Contribution to journal › Article
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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
- 2016
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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
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
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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
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
(
- Contribution to journal › Article
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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
- 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
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Mark
Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
(
- Contribution to journal › Article
- 2011
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Mark
Mutation Update for the PORCN Gene
(
- Contribution to journal › Article
- 2010
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Mark
How to Handle Genetic Information: A Comparison of Attitudes among Patients and the General Population
(
- Contribution to journal › Article
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Mark
Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
(
- Contribution to journal › Article
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Mark
Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
(
- Contribution to journal › Scientific review
- 2008
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Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- 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
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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
- 2007
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Mark
Discrepancies between estimated and perceived risk of cancer among individuals with hereditary nonpolyposis colorectal cancer
(
- Contribution to journal › Article
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Mark
Cytogenetic findings in pediatric renal cell carcinoma
(
- Contribution to journal › Article
- 2006
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Mark
Confirmation of the high frequency of the TMPRSS2/ERG fusion gene in prostate cancer.
(
- Contribution to journal › Letter
- 2004
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Mark
A model for karyotypic evolution in testicular germ cell tumors.
(
- Contribution to journal › Article
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Mark
Dissecting karyotypic patterns in renal cell carcinoma: an analysis of the accumulated cytogenetic data.
(
- Contribution to journal › Article
- 2003
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Mark
Cytogenetic findings and clinical course in a consecutive series of Wilms tumors
(
- Contribution to journal › Article