Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 8
Results: 16
Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
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- Human Mutation, 2011, v. 32, n. 8, p. 868, doi. 10.1002/humu.21520
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- Article
Characterization of copy number-stable regions in the human genome.
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- Human Mutation, 2011, v. 32, n. 8, p. 947, doi. 10.1002/humu.21524
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- Article
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions.
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- Human Mutation, 2011, v. 32, n. 8, p. 894, doi. 10.1002/humu.21517
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A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease.
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- Human Mutation, 2011, v. 32, n. 8, p. 965, doi. 10.1002/humu.21530
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- Article
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 ( PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
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- Human Mutation, 2011, v. 32, n. 8, p. 956, doi. 10.1002/humu.21527
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Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
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- Human Mutation, 2011, v. 32, n. 8, p. 912, doi. 10.1002/humu.21511
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- Article
Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cells.
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- Human Mutation, 2011, v. 32, n. 8, p. 939, doi. 10.1002/humu.21522
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- Article
L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.
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- Human Mutation, 2011, v. 32, n. 8, p. 978, doi. 10.1002/humu.21533
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- Article
Classifying variants of CDKN2A using computational and laboratory studies.
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- Human Mutation, 2011, v. 32, n. 8, p. 900, doi. 10.1002/humu.21504
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- Article
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder ( NOG-SSD).
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- Human Mutation, 2011, v. 32, n. 8, p. 877, doi. 10.1002/humu.21515
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- Article
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
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- Human Mutation, 2011, v. 32, n. 8, p. 921, doi. 10.1002/humu.21519
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ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource.
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- Human Mutation, 2011, v. 32, n. 8, p. 887, doi. 10.1002/humu.21510
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- Article
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
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- Human Mutation, 2011, v. 32, n. 8, p. 930, doi. 10.1002/humu.21521
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- Article
In Search of Genomic Stability: Characterizing Copy Number Stable Regions.
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- Human Mutation, 2011, v. 32, n. 8, p. v, doi. 10.1002/humu.21572
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- Article
LPAR1 and ITGA4 regulate peripheral blood monocyte counts.
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- Human Mutation, 2011, v. 32, n. 8, p. 873, doi. 10.1002/humu.21536
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- Article
Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy.
- Published in:
- Human Mutation, 2011, v. 32, n. 8, p. 861, doi. 10.1002/humu.21518
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- Article