HUMAN MUTATION,volume 36,issue 12  (12-2015)

Period of time： 2015年12期

Publisher： John Wiley & Sons Inc

Founded in： 1992

Total resources： 41

E-ISSN： 1098-1004|36|12

ISSN： 1059-7794

Subject： Q Biological Sciences

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HUMAN MUTATION,volume 36,issue 12

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Serial Hunt for Ciliary Genes in Complex Syndromes

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. v-v

John Wiley & Sons Inc

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1113-1127

John Wiley & Sons Inc

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Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON‐MMR2

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1128-1134

John Wiley & Sons Inc

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Network‐Informed Gene Ranking Tackles Genetic Heterogeneity in Exome‐Sequencing Studies of Monogenic Disease

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1135-1144

John Wiley & Sons Inc

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SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1145-1149

John Wiley & Sons Inc

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Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1150-1154

John Wiley & Sons Inc

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A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1155-1158

John Wiley & Sons Inc

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GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1159-1163

John Wiley & Sons Inc

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Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1164-1167

John Wiley & Sons Inc

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Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post‐Translational Cleavage and Secretion

HUMAN MUTATION,volume 36,issue 12 , Vol. 36, Iss. 12, 2015-12 , pp. 1168-1175

John Wiley & Sons Inc

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