Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 8
Results: 23
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
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- Human Mutation, 2012, v. 33, n. 8, p. 1201, doi. 10.1002/humu.22098
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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
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- Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099
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Tandem repeat polymorphisms as modulators of biological function and dysfunction.
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- Human Mutation, 2012, v. 33, n. 8, p. v, doi. 10.1002/humu.22579
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PON-P: Integrated predictor for pathogenicity of missense variants.
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- Human Mutation, 2012, v. 33, n. 8, p. 1166, doi. 10.1002/humu.22102
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Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.
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- Human Mutation, 2012, v. 33, n. 8, p. 1285, doi. 10.1002/humu.22109
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Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics.
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- Human Mutation, 2012, v. 33, n. 8, p. v, doi. 10.1002/humu.22578
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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/ in vitro studies on BRCA1 and BRCA2 variants.
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- Human Mutation, 2012, v. 33, n. 8, p. 1228, doi. 10.1002/humu.22101
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LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
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- Human Mutation, 2012, v. 33, n. 8, p. 1182, doi. 10.1002/humu.22105
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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
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- Human Mutation, 2012, v. 33, n. 8, p. 1251, doi. 10.1002/humu.22106
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Mutation update on the CHD7 gene involved in CHARGE syndrome.
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- Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
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Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cells.
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- Human Mutation, 2012, v. 33, n. 8, p. 1216, doi. 10.1002/humu.22100
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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
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- Human Mutation, 2012, v. 33, n. 8, p. 1175, doi. 10.1002/humu.22111
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In memory of David L. Rimoin, MD, PhD (1936-2012).
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- Human Mutation, 2012, v. 33, n. 8, p. vi, doi. 10.1002/humu.22151
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Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
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- Human Mutation, 2012, v. 33, n. 8, p. 1239, doi. 10.1002/humu.22103
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Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB.
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- Human Mutation, 2012, v. 33, n. 8, p. 1302, doi. 10.1002/humu.22115
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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
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- Human Mutation, 2012, v. 33, n. 8, p. 1161, doi. 10.1002/humu.22108
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Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
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- Human Mutation, 2012, v. 33, n. 8, p. 1294, doi. 10.1002/humu.22119
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Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
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- Human Mutation, 2012, v. 33, n. 8, p. 1267, doi. 10.1002/humu.22110
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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
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- Human Mutation, 2012, v. 33, n. 8, p. 1261, doi. 10.1002/humu.22104
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Paralogous annotation of disease-causing variants in long QT syndrome genes.
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- Human Mutation, 2012, v. 33, n. 8, p. 1188, doi. 10.1002/humu.22114
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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.
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- Human Mutation, 2012, v. 33, n. 8, p. 1310, doi. 10.1002/humu.22136
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Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9.
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- Human Mutation, 2012, v. 33, n. 8, p. 1275, doi. 10.1002/humu.22107
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SURF1-associated leigh syndrome: A case series and novel mutations.
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- Human Mutation, 2012, v. 33, n. 8, p. 1192, doi. 10.1002/humu.22095
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