Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 12
Results: 17
Defects in tRNA Anticodon Loop 2′- O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.
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- Human Mutation, 2015, v. 36, n. 12, p. 1176, doi. 10.1002/humu.22897
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- Publication type:
- Article
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
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- Human Mutation, 2015, v. 36, n. 12, p. 1159, doi. 10.1002/humu.22898
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- Publication type:
- Article
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations of NMNAT1.
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- Human Mutation, 2015, v. 36, n. 12, p. 1188, doi. 10.1002/humu.22899
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- Article
Serial Hunt for Ciliary Genes in Complex Syndromes.
- Published in:
- 2015
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- Publication type:
- Other
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
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- Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
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- Publication type:
- Article
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
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- Human Mutation, 2015, v. 36, n. 12, p. 1128, doi. 10.1002/humu.22900
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- Publication type:
- Article
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
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- Human Mutation, 2015, v. 36, n. 12, p. 1197, doi. 10.1002/humu.22901
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- Publication type:
- Article
Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.
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- Human Mutation, 2015, v. 36, n. 12, p. 1205, doi. 10.1002/humu.22902
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- Publication type:
- Article
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
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- Human Mutation, 2015, v. 36, n. 12, p. 1215, doi. 10.1002/humu.22903
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- Publication type:
- Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
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- Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
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- Publication type:
- Article
Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine.
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- Human Mutation, 2015, v. 36, n. 12, p. 1236, doi. 10.1002/humu.22905
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- Publication type:
- Article
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.
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- Human Mutation, 2015, v. 36, n. 12, p. 1135, doi. 10.1002/humu.22906
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- Publication type:
- Article
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
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- Human Mutation, 2015, v. 36, n. 12, p. 1164, doi. 10.1002/humu.22907
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- Publication type:
- Article
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
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- Human Mutation, 2015, v. 36, n. 12, p. 1226, doi. 10.1002/humu.22908
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- Publication type:
- Article
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
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- Human Mutation, 2015, v. 36, n. 12, p. 1145, doi. 10.1002/humu.22854
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- Publication type:
- Article
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1168, doi. 10.1002/humu.22855
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- Publication type:
- Article
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1150, doi. 10.1002/humu.22859
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- Article