Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 7
Results: 17
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling.
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- Human Mutation, 2013, v. 34, n. 7, p. 986, doi. 10.1002/humu.22326
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- Article
Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data.
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- Human Mutation, 2013, v. 34, n. 7, p. 945, doi. 10.1002/humu.22322
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- Article
Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer.
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- Human Mutation, 2013, v. 34, n. 7, p. 1026, doi. 10.1002/humu.22333
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- Article
Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations.
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- Human Mutation, 2013, v. 34, n. 7, p. 974, doi. 10.1002/humu.22327
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- Article
In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy.
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- Human Mutation, 2013, v. 34, n. 7, p. 1005, doi. 10.1002/humu.22324
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- Article
Different Molecular Consequences of Frameshift Mutations in the ANTXR2 Gene.
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- Human Mutation, 2013, v. 34, n. 7, p. v, doi. 10.1002/humu.22190
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- Article
How to Assess Causality of TMPRSS6 Mutations?
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- Human Mutation, 2013, v. 34, n. 7, p. 1043, doi. 10.1002/humu.22321
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- Article
Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria.
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- Human Mutation, 2013, v. 34, n. 7, p. 927, doi. 10.1002/humu.22320
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- Article
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.
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- Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331
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- Article
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics.
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- Human Mutation, 2013, v. 34, n. 7, p. 1035, doi. 10.1002/humu.22332
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- Article
Mutations in the C-Terminal Domain of Col Q in Endplate Acetylcholinesterase Deficiency Compromise Col Q- Mu SK Interaction.
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- Human Mutation, 2013, v. 34, n. 7, p. 997, doi. 10.1002/humu.22325
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- Article
A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 ( CRMP4) Gene is Associated with ALS.
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- Human Mutation, 2013, v. 34, n. 7, p. 953, doi. 10.1002/humu.22329
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- Article
The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes.
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- Human Mutation, 2013, v. 34, n. 7, p. 1046, doi. 10.1002/humu.22334
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- Article
Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease.
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- Human Mutation, 2013, v. 34, n. 7, p. 1047, doi. 10.1002/humu.22345
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- Article
A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED- CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing.
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- Human Mutation, 2013, v. 34, n. 7, p. 967, doi. 10.1002/humu.22316
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- Article
A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome.
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- Human Mutation, 2013, v. 34, n. 7, p. 961, doi. 10.1002/humu.22328
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- Article
Online Biomedical Resources for Malaria-Related Red Cell Disorders.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 937, doi. 10.1002/humu.22330
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- Article