A population-based study of autosomal-recessive disease-causing mutations in a founder population
about
From mouse to human: evolutionary genomics analysis of human orthologs of essential genesPlant Sterols, Stanols, and SitosterolemiaPhenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriersPRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder populationPrevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.Native American admixture in the Quebec founder population.Disclosure of genetic research results to members of a founder population.Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.An estimate of the average number of recessive lethal mutations carried by humans.The c.64_80del SMIM1 allele is segregating in the Hutterite population.Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationRare non-coding variants are associated with plasma lipid traits in a founder population.Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
P2860
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P2860
A population-based study of autosomal-recessive disease-causing mutations in a founder population
description
2012 nî lūn-bûn
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name
A population-based study of au ...... ations in a founder population
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A population-based study of au ...... ations in a founder population
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type
label
A population-based study of au ...... ations in a founder population
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A population-based study of au ...... ations in a founder population
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prefLabel
A population-based study of au ...... ations in a founder population
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A population-based study of au ...... ations in a founder population
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P2093
P2860
P1476
A population-based study of au ...... ations in a founder population
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Darrel J Waggoner
Rebecca L Anderson
Rebecca Ouwenga
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P304
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10.1016/J.AJHG.2012.08.007
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P577
2012-09-13T00:00:00Z