Found: 16
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Human Variation 2.0: Using GWAS to Probe Intermediate Phenotypes.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. iv, doi. 10.1002/humu.22181
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- Article
Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations.
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- Human Mutation, 2013, v. 34, n. 3, p. 411, doi. 10.1002/humu.22265
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- Article
An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome.
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- Human Mutation, 2013, v. 34, n. 3, p. 417, doi. 10.1002/humu.22266
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- Article
Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome.
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- Human Mutation, 2013, v. 34, n. 3, p. 430, doi. 10.1002/humu.22252
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- Article
Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family.
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- Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260
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- Article
Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing.
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- Human Mutation, 2013, v. 34, n. 3, p. 439, doi. 10.1002/humu.22251
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- Article
Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.
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- Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257
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- Article
Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients.
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- Human Mutation, 2013, v. 34, n. 3, p. 453, doi. 10.1002/humu.22254
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- Article
Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.
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- Human Mutation, 2013, v. 34, n. 3, p. 462, doi. 10.1002/humu.22261
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- Article
Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts.
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- Human Mutation, 2013, v. 34, n. 3, p. 473, doi. 10.1002/humu.22258
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- Article
Novel XPG ( ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress.
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- Human Mutation, 2013, v. 34, n. 3, p. 481, doi. 10.1002/humu.22259
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- Article
Cancer Risks for MLH 1 and MSH 2 Mutation Carriers.
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- Human Mutation, 2013, v. 34, n. 3, p. 490, doi. 10.1002/humu.22262
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- Article
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts.
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- Human Mutation, 2013, v. 34, n. 3, p. 498, doi. 10.1002/humu.22263
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- Article
RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy.
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- Human Mutation, 2013, v. 34, n. 3, p. 506, doi. 10.1002/humu.22264
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- Article
A Genome-Wide Assessment of Variability in Human Serum Metabolism.
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- Human Mutation, 2013, v. 34, n. 3, p. 515, doi. 10.1002/humu.22267
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- Article
Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 525, doi. 10.1002/humu.22269
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- Article