Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 4
Results: 18
Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 452, doi. 10.1002/humu.22504
- By:
- Publication type:
- Article
Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 ( LRRK2).
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 395, doi. 10.1002/humu.22515
- By:
- Publication type:
- Article
Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 511, doi. 10.1002/humu.22526
- By:
- Publication type:
- Article
Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 486, doi. 10.1002/humu.22519
- By:
- Publication type:
- Article
Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 497, doi. 10.1002/humu.22521
- By:
- Publication type:
- Article
Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 413, doi. 10.1002/humu.22525
- By:
- Publication type:
- Article
TBC1 D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 447, doi. 10.1002/humu.22529
- By:
- Publication type:
- Article
New Clues to the Relationship Between Endoplasmic Reticulum, Lipid Metabolism and Axonopathies.
- Published in:
- 2014
- By:
- Publication type:
- Other
Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 470, doi. 10.1002/humu.22513
- By:
- Publication type:
- Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 434, doi. 10.1002/humu.22490
- By:
- Publication type:
- Article
Contents.
- Published in:
- 2014
- Publication type:
- Other
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 462, doi. 10.1002/humu.22511
- By:
- Publication type:
- Article
The Challenge of Genomic Medicine.
- Published in:
- 2014
- By:
- Publication type:
- Other
Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 505, doi. 10.1002/humu.22516
- By:
- Publication type:
- Article
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N).
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 512, doi. 10.1002/humu.22527
- By:
- Publication type:
- Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
- By:
- Publication type:
- Article
Expanding the Mutational Spectrum of CRLF1 in Crisponi/ CISS1 Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 424, doi. 10.1002/humu.22522
- By:
- Publication type:
- Article
A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 442, doi. 10.1002/humu.22505
- By:
- Publication type:
- Article