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- 2019
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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
- 2018
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Mark
Phenocopies in melanoma-prone families with germ-line CDKN2A mutations
(
- 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
(
- 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
(
- 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
-
Mark
Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.
(
- Contribution to journal › Article