Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 6
Results: 20
Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance.
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- Human Mutation, 2013, v. 34, n. 6, p. 923, doi. 10.1002/humu.22310
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Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
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- Human Mutation, 2013, v. 34, n. 6, p. 915, doi. 10.1002/humu.22306
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Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants.
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- Human Mutation, 2013, v. 34, n. 6, p. 836, doi. 10.1002/humu.22303
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- Article
Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.
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- Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307
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- Article
Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy.
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- Human Mutation, 2013, v. 34, n. 6, p. 869, doi. 10.1002/humu.22318
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- Article
Human 'Monogenic' Disease Gene Discovery: When Models of Inheritance Go Wrong.
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- Human Mutation, 2013, v. 34, n. 6, p. v, doi. 10.1002/humu.22189
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- Article
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.
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- Human Mutation, 2013, v. 34, n. 6, p. 801, doi. 10.1002/humu.22313
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Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1 B, Results in Overgrowth and Neurodevelopmental Delay.
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- Human Mutation, 2013, v. 34, n. 6, p. 864, doi. 10.1002/humu.22314
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- Article
Prioritization of Retinal Disease Genes: An Integrative Approach.
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- Human Mutation, 2013, v. 34, n. 6, p. 853, doi. 10.1002/humu.22317
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New Tools of the Trade for Large-scale Collaborative Genome Analysis.
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- Human Mutation, 2013, v. 34, n. 6, p. v, doi. 10.1002/humu.22188
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- Article
Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance.
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- Human Mutation, 2013, v. 34, n. 6, p. 920, doi. 10.1002/humu.22312
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- Article
RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs.
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- Human Mutation, 2013, v. 34, n. 6, p. 925, doi. 10.1002/humu.22323
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- Article
GEnomes Management Application ( GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis.
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- Human Mutation, 2013, v. 34, n. 6, p. 842, doi. 10.1002/humu.22305
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- Article
Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.
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- Human Mutation, 2013, v. 34, n. 6, p. 860, doi. 10.1002/humu.22309
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- Article
Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level.
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- Human Mutation, 2013, v. 34, n. 6, p. 873, doi. 10.1002/humu.22300
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- Article
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome.
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- Human Mutation, 2013, v. 34, n. 6, p. 847, doi. 10.1002/humu.22311
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- Article
EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences.
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- Human Mutation, 2013, v. 34, n. 6, p. 894, doi. 10.1002/humu.22304
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- Article
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics.
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- Human Mutation, 2013, v. 34, n. 6, p. 827, doi. 10.1002/humu.22315
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- Article
The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia.
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- Human Mutation, 2013, v. 34, n. 6, p. 905, doi. 10.1002/humu.22308
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TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update.
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- Human Mutation, 2013, v. 34, n. 6, p. 812, doi. 10.1002/humu.22319
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- Article