Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 8
Results: 12
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 753, doi. 10.1002/humu.22797
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- Publication type:
- Article
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 815, doi. 10.1002/humu.22813
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- Publication type:
- Article
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 797, doi. 10.1002/humu.22814
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- Publication type:
- Article
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 758, doi. 10.1002/humu.22815
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- Publication type:
- Article
Contents.
- Published in:
- 2015
- Publication type:
- Other
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 808, doi. 10.1002/humu.22802
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- Publication type:
- Article
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. E2430, doi. 10.1002/humu.22803
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- Publication type:
- Article
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804
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- Publication type:
- Article
An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 764, doi. 10.1002/humu.22805
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- Publication type:
- Article
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809
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- Publication type:
- Article
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 774, doi. 10.1002/humu.22808
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- Publication type:
- Article
In Memoriam: Richard G.H. Cotton (1940-2015).
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 741, doi. 10.1002/humu.22826
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- Publication type:
- Article