Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 6
Results: 14
LSDBs and How They Have Evolved.
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- Human Mutation, 2016, v. 37, n. 6, p. 532, doi. 10.1002/humu.22979
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- Article
Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton.
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- Human Mutation, 2016, v. 37, n. 6, p. 598, doi. 10.1002/humu.22990
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- Article
Variation Interpretation Predictors: Principles, Types, Performance, and Choice.
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- Human Mutation, 2016, v. 37, n. 6, p. 579, doi. 10.1002/humu.22987
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HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.
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- Human Mutation, 2016, v. 37, n. 6, p. 576, doi. 10.1002/humu.22978
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- Article
What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.
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- Human Mutation, 2016, v. 37, n. 6, p. 570, doi. 10.1002/humu.22975
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- Article
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
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- Human Mutation, 2016, v. 37, n. 6, p. 564, doi. 10.1002/humu.22981
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- Article
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
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- Human Mutation, 2016, v. 37, n. 6, p. 559, doi. 10.1002/humu.22982
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- Article
Human Variome Project Quality Assessment Criteria for Variation Databases.
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- Human Mutation, 2016, v. 37, n. 6, p. 549, doi. 10.1002/humu.22976
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- Article
25 Years of Human Mutation.
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- Human Mutation, 2016, v. 37, n. 6, p. 503, doi. 10.1002/humu.22988
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Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
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- Human Mutation, 2016, v. 37, n. 6, p. 524, doi. 10.1002/humu.22977
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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
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- Human Mutation, 2016, v. 37, n. 6, p. 516, doi. 10.1002/humu.22989
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- Article
Genetics of Phenylketonuria: Then and Now.
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- Human Mutation, 2016, v. 37, n. 6, p. 508, doi. 10.1002/humu.22980
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The Human Variome Project.
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- Human Mutation, 2016, v. 37, n. 6, p. 505, doi. 10.1002/humu.22986
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- Article
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
- Published in:
- Human Mutation, 2016, v. 37, n. 6, p. 540, doi. 10.1002/humu.22974
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- Article