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- 2023
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Mark
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
(
- Contribution to journal › Article
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Mark
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
(
- Contribution to journal › Article
-
Mark
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2 : the BRCA1 and BRCA2 Cohort Consortium
(
- Contribution to journal › Article
- 2022
-
Mark
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
(
- Contribution to journal › Article
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Mark
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
(
- Contribution to journal › Article
- 2021
-
Mark
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): : initial results from an international prospective study
(
- 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
- 2019
-
Mark
Gene transfer by interspecific hybridization in bryophytes
2019)(
- Thesis › Doctoral thesis (compilation)
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Mark
Genotyping and serotyping profiles showed weak Jka presentation for previously typed as Jknull donors
(
- Contribution to journal › Article
-
Mark
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
(
- Contribution to journal › Article
- 2016
-
Mark
Heterozygous PINK1 p.G411S mutation increases risk for Parkinson's disease (PD)
2016) 20th International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 31(Suppl. S2). p.282-282(
- Contribution to journal › Published meeting abstract
- 2015
-
Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
(
- Contribution to journal › Article
- 2014
-
Mark
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2013
-
Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
-
Mark
Suicidal ideation in a European Huntington's disease population
(
- Contribution to journal › Article
- 2012
-
Mark
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2011
-
Mark
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
(
- Contribution to journal › Article
-
Mark
Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
(
- Contribution to journal › Article
-
Mark
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
(
- 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
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2010
-
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
- 2009
-
Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2008
-
Mark
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
(
- Contribution to journal › Article
- 2007
-
Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
- 2003
-
Mark
Characterization of a novel breast carcinoma xenograft and cell line derived from a BRCA1 germ-line mutation carrier
(
- Contribution to journal › Article
- 2002
-
Mark
Maintenance of susceptibility to neurodegeneration following intrastriatal injections of quinolinic acid in a new transgenic mouse model of Huntington's disease.
(
- Contribution to journal › Article
- 2001
-
Mark
Gene-expression profiles in hereditary breast cancer
(
- Contribution to journal › Article
-
Mark
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer
(
- Contribution to journal › Article
- 1999
-
Mark
Cancer risks in BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Long-term psychological effects of carrier testing and prenatal diagnosis of haemophilia: Comparison with a control group
(
- Contribution to journal › Article
- 1998
-
Mark
BRCA1-positive patients are small for gestational age compared with their unaffected relatives
(
- Contribution to journal › Article
-
Mark
BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease
(
- Contribution to journal › Article
-
Mark
Keimbahnmutationen im MEN1-Gen : Basis für prädiktives genetisches Screening und klinisches Management von MEN1-Familien
(
- Contribution to journal › Article
-
Mark
Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect
(
- Contribution to journal › Article
- 1997
-
Mark
Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations
(
- Contribution to journal › Article
- 1989
-
Mark
How do carriers of hemophilia experience prenatal diagnosis (PND)? : Carriers' Immediate and later reactions to amniocentesis and fetal blood sampling
(
- Contribution to journal › Article