Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 3
Results: 16
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 246, doi. 10.1002/humu.22940
- By:
- Publication type:
- Article
MESP1 Mutations in Patients with Congenital Heart Defects.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 308, doi. 10.1002/humu.22947
- By:
- Publication type:
- Article
Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 292, doi. 10.1002/humu.22943
- By:
- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 225, doi. 10.1002/humu.22869
- Publication type:
- Article
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 231, doi. 10.1002/humu.22944
- By:
- Publication type:
- Article
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 301, doi. 10.1002/humu.22946
- By:
- Publication type:
- Article
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 269, doi. 10.1002/humu.22942
- By:
- Publication type:
- Article
Cover Image, Volume 37, Issue 3.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. NA, doi. 10.1002/humu.22968
- Publication type:
- Article
Microdeletions, Rearrangements, and Cancer Susceptibility.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 229, doi. 10.1002/humu.22864
- By:
- Publication type:
- Article
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 280, doi. 10.1002/humu.22945
- By:
- Publication type:
- Article
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 235, doi. 10.1002/humu.22932
- By:
- Publication type:
- Article
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ' PIK3CA-Related Overgrowth Spectrum'.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 242, doi. 10.1002/humu.22933
- By:
- Publication type:
- Article
Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 315, doi. 10.1002/humu.22936
- By:
- Publication type:
- Article
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 324, doi. 10.1002/humu.22937
- By:
- Publication type:
- Article
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 250, doi. 10.1002/humu.22938
- By:
- Publication type:
- Article
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 257, doi. 10.1002/humu.22939
- By:
- Publication type:
- Article