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- 2023
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Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- Contribution to journal › Article
- 2022
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Mark
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
(
- Contribution to journal › Article
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Mark
Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries
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- Contribution to journal › Article
- 2021
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Mark
Treatment of ARS deficiencies with specific amino acids
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- Contribution to journal › Article
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Mark
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
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- 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
- 2020
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Mark
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
2020) In Genetics in Medicine(
- Contribution to journal › Article
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Mark
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
(
- Contribution to journal › Article
- 2019
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Mark
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
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- Contribution to journal › Article
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Mark
Sharing data for future research—engaging participants’ views about data governance beyond the original project : a DIRECT Study
(
- Contribution to journal › Article
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Mark
Written pretest information and germline BRCA1/2 pathogenic variant testing in unselected breast cancer patients : predictors of testing uptake
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- Contribution to journal › Article
- 2018
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Mark
Phenocopies in melanoma-prone families with germ-line CDKN2A mutations
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- Contribution to journal › Article
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Mark
PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
(
- Contribution to journal › Article
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Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
(
- Contribution to journal › Article
- 2016
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Mark
Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency : A perinatal protocol for use before population neonatal screening test results become available
(
- Contribution to journal › Letter
- 2009
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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
- 2008
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Mark
Genetics in clinical practice: general practitioners' educational priorities in European countries
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- 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
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- Contribution to journal › Article
- 2006
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Mark
Familial risks of aortic aneurysms among siblings in a nationwide Swedish study
(
- Contribution to journal › Article
- 2005
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Mark
Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.
(
- Contribution to journal › Article
- 2001
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Mark
Issues in Human GenEthics
(
- Contribution to journal › Article