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- 2011
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Mark
Searching for the Missing Heritability of Complex Diseases
(
- Contribution to journal › Letter
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Mark
Mutation Update for the PORCN Gene
(
- Contribution to journal › Article
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Mark
Performance of mutation pathogenicity prediction methods on missense variants.
(
- Contribution to journal › Article
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Mark
LOVD v.2.0 : the next generation in gene variant databases
(
- Contribution to journal › Article
- 2010
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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
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
(
- Contribution to journal › Article
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Mark
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
(
- Contribution to journal › Article
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Mark
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
(
- Contribution to journal › Article
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Mark
Performance of protein stability predictors.
(
- Contribution to journal › Article
- 2009
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Mark
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
(
- Contribution to journal › Article