Found: 22
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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709
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- Publication type:
- Article
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691
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- Publication type:
- Article
Contents.
- Published in:
- 2015
- Publication type:
- Other
MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 87, doi. 10.1002/humu.22711
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- Publication type:
- Article
Whole-Exome Sequencing Identifies a Variant in TMEM132 E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 98, doi. 10.1002/humu.22712
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- Publication type:
- Article
GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 11, doi. 10.1002/humu.22696
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- Publication type:
- Article
Disruption of the SEMA3 D Gene in a Patient with Congenital Heart Defects.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 30, doi. 10.1002/humu.22702
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- Publication type:
- Article
Simultaneous Analysis of Hundreds of Y-Chromosomal SNPs for High-Resolution Paternal Lineage Classification using Targeted Semiconductor Sequencing.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 151, doi. 10.1002/humu.22713
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- Publication type:
- Article
Novel SLC5 A2 Variants Contribute to Renal Glucosuria in Chinese Families: Abnormal Expression and Dysfunction of Variant SLC5 A2.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 79, doi. 10.1002/humu.22714
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- Publication type:
- Article
Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 34, doi. 10.1002/humu.22715
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- Publication type:
- Article
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 39, doi. 10.1002/humu.22716
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- Publication type:
- Article
Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 43, doi. 10.1002/humu.22717
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- Publication type:
- Article
Variants in CUL4B are Associated with Cerebral Malformations.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 106, doi. 10.1002/humu.22718
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- Publication type:
- Article
The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 118, doi. 10.1002/humu.22719
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- Publication type:
- Article
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 26, doi. 10.1002/humu.22685
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- Publication type:
- Article
WGS and targetted sequencing in acute lymphoblastic leukemia identifies putative enhancer mutation associated with over-expression of a growth factor.
- Published in:
- 2015
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- Publication type:
- Other
Regulation of body and brain size: role of MAP4 and other centrosomal proteins.
- Published in:
- 2015
- By:
- Publication type:
- Other
Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 20, doi. 10.1002/humu.22703
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- Publication type:
- Article
Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 1, doi. 10.1002/humu.22704
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- Publication type:
- Article
Next Generation Sequencing Identifies a Novel Rearrangement in the HBB Cluster Permitting to-the-Base Characterization.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 142, doi. 10.1002/humu.22707
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- Publication type:
- Article
Identification and Characterization of Aberrant GAA Pre-m RNA Splicing in Pompe Disease Using a Generic Approach.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 57, doi. 10.1002/humu.22705
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- Publication type:
- Article
Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 129, doi. 10.1002/humu.22721
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- Publication type:
- Article