HUMAN MUTATION,volume 36,issue 8  (08-2015)

Period of time： 2015年8期

Publisher： John Wiley & Sons Inc

Founded in： 1992

Total resources： 41

E-ISSN： 1098-1004|36|8

ISSN： 1059-7794

Subject： Q Biological Sciences

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HUMAN MUTATION,volume 36,issue 8

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The KM‐parkin‐DB: A Sub‐set MutationView Database Specialized for PARK2 (PARKIN) Variants

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. E2430-E2440

John Wiley & Sons Inc

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Contents

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. i-ii

John Wiley & Sons Inc

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In Memoriam: Richard G.H. Cotton (1940–2015)

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 741-742

John Wiley & Sons Inc

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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 743-752

John Wiley & Sons Inc

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A Gain‐of‐Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 753-757

John Wiley & Sons Inc

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Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 758-763

John Wiley & Sons Inc

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An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 764-773

John Wiley & Sons Inc

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Structural and Functional Impact of Parkinson Disease‐Associated Mutations in the E3 Ubiquitin Ligase Parkin

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 774-786

John Wiley & Sons Inc

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Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 787-796

John Wiley & Sons Inc

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Whole‐Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

HUMAN MUTATION,volume 36,issue 8 , Vol. 36, Iss. 8, 2015-08 , pp. 797-807

John Wiley & Sons Inc

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