Found: 17
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Issue Information.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 985, doi. 10.1002/humu.22890
- Publication type:
- Article
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1051, doi. 10.1002/humu.23043
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- Publication type:
- Article
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1097, doi. 10.1002/humu.23047
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- Publication type:
- Article
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1013, doi. 10.1002/humu.23048
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- Publication type:
- Article
Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1110, doi. 10.1002/humu.23059
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- Publication type:
- Article
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1085, doi. 10.1002/humu.23050
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- Publication type:
- Article
Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1106, doi. 10.1002/humu.23022
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- Publication type:
- Article
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1025, doi. 10.1002/humu.23031
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- Publication type:
- Article
MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1004, doi. 10.1002/humu.23036
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- Publication type:
- Article
Deep Genetic Connection Between Cancer and Developmental Disorders.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1042, doi. 10.1002/humu.23040
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- Publication type:
- Article
Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1030, doi. 10.1002/humu.23041
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- Publication type:
- Article
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 991, doi. 10.1002/humu.23042
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- Publication type:
- Article
Cancer Genetics May Aid Diagnostics of Developmental Disorders.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 989, doi. 10.1002/humu.23068
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- Publication type:
- Article
MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1060, doi. 10.1002/humu.23045
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- Publication type:
- Article
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1074, doi. 10.1002/humu.23046
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- Publication type:
- Article
Both Generic and Protein-Specific Tolerance Predictors Are Needed.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 989, doi. 10.1002/humu.23069
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- Publication type:
- Article
Cover Image, Volume 37, Issue 10.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. i, doi. 10.1002/humu.23115
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- Publication type:
- Article