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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
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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
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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
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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
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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
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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
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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
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Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
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Mark
Suicidal ideation in a European Huntington's disease population
(
- Contribution to journal › Article
- 2012
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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
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Mark
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2011
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Mark
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
(
- Contribution to journal › Article
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Mark
Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
(
- Contribution to journal › Article