Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 7
Results: 18
TBC1 D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 819, doi. 10.1002/humu.22557
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- Publication type:
- Article
Palindrome-Related Mutations in Neurofibromatosis 1: a New Hot-Spot, at PATRR17.
- Published in:
- 2014
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- Publication type:
- Other
Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 794, doi. 10.1002/humu.22564
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- Publication type:
- Article
TCIRG1-Associated Congenital Neutropenia.
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- Human Mutation, 2014, v. 35, n. 7, p. 824, doi. 10.1002/humu.22563
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- Publication type:
- Article
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.
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- Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
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- Publication type:
- Article
STK11 Domain XI Mutations: Candidate Genetic Drivers Leading to the Development of Dysplastic Polyps in Peutz- Jeghers Syndrome.
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- Human Mutation, 2014, v. 35, n. 7, p. 851, doi. 10.1002/humu.22549
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- Publication type:
- Article
Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 859, doi. 10.1002/humu.22551
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- Publication type:
- Article
Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 809, doi. 10.1002/humu.22555
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- Publication type:
- Article
An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 899, doi. 10.1002/humu.22537
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- Publication type:
- Article
Identification of a Novel 5′ Alternative CFTR m RNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations.
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- Human Mutation, 2014, v. 35, n. 7, p. 805, doi. 10.1002/humu.22548
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- Publication type:
- Article
Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available?
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- Human Mutation, 2014, v. 35, n. 7, p. 791, doi. 10.1002/humu.22588
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- Publication type:
- Article
CDKN2 A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment.
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- Human Mutation, 2014, v. 35, n. 7, p. 828, doi. 10.1002/humu.22550
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- Publication type:
- Article
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 779, doi. 10.1002/humu.22554
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- Publication type:
- Article
Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 880, doi. 10.1002/humu.22565
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- Publication type:
- Article
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 841, doi. 10.1002/humu.22547
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- Publication type:
- Article
A Dominant Mutation in the Stereocilia-Expressing Gene TBC1 D24 is a Probable Cause for Nonsyndromic Hearing Impairment.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 814, doi. 10.1002/humu.22558
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- Publication type:
- Article
Contents.
- Published in:
- 2014
- Publication type:
- Other
Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 891, doi. 10.1002/humu.22569
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- Publication type:
- Article