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- 2009
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Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article
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Mark
Sharing data between LSDBs and central repositories.
(
- Contribution to journal › Article
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Mark
A novel mutation in CD40 and its functional characterization.
(
- Contribution to journal › Article
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Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
(
- Contribution to journal › Scientific review
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Mark
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
(
- Contribution to journal › Article
- 2008
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Mark
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).
(
- Contribution to journal › Article
- 2007
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Mark
PhenCode: connecting ENCODE data with mutations and phenotype.
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- Contribution to journal › Article
- 2006
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Mark
Long-range PCR facilitates the identification of PMS2-specific mutations
(
- Contribution to journal › Article
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Mark
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
(
- Contribution to journal › Article
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Mark
BTKbase: the mutation database for X-linked agammaglobulinemia.
(
- Contribution to journal › Scientific review