Similarity of the allele frequency and linkage disequilibrium pattern of single nucleotide polymorphisms in drug-related gene loci between Thai and northern East Asian populations: implications for tagging SNP selection in ThaisIsolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferasesChromosomal mapping of two RBP-J-related genes: Kyo-T and RBP-LThe human regulator of G-protein signaling protein 6 gene (RGS6) maps between markers WI-5202 and D14S277 on chromosome 14q24.3Isolation and chromosomal mapping of a novel human gene showing homology to Na+/PO4 cotransporterCloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genesC16orf5, a novel proline-rich gene at 16p13.3, is highly expressed in the brainThe effect of genetic polymorphisms in the vinyl chloride metabolic pathway on mutagenic riskCharacterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A geneMutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing lossIdentification of a novel liver-specific expressed gene, TCP10L, encoding a human leucine zipper protein with transcription inhibition activityComparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry miceDeregulated expression of KRAP, a novel gene encoding actin-interacting protein, in human colon cancer cellsAxis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesisCloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKLGenetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitusMutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in JapaneseA novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees CSNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean populationNovel KCNA5 loss-of-function mutations responsible for atrial fibrillationExome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyExpression and chromosomal localization of KIAA0369, a putative kinase structurally related to DoublecortinIdentification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperoneCloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxiaNew susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean populationComprehensive evaluation of imputation performance in African AmericansEvolutionary dynamics of olfactory and other chemosensory receptor genes in vertebratesKagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted regionThe impact of next-generation sequencing technologies on HLA researchCardiovascular pharmacogenomics: current status and future directionsGenetics of autoimmune diseases: insights from population geneticsPairomics, the omics way to mate choicePharmacogenomics of anti-platelet therapy: how much evidence is enough for clinical implementation?Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3Molecular characterization of galactokinase deficiency in Japanese patientsMutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complexGenomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) geneHuman cathepsin S gene (CTSS) promoter -25G/A polymorphism
P1433
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P1433
description
revista científica
@es
revue scientifique
@fr
rivista scientifica
@it
scientific journal
@en
videnskabeligt tidsskrift
@da
vědecký časopis
@cs
wetenschappelijk tijdschrift van Nature Publishing Group
@nl
wissenschaftliche Fachzeitschrift
@de
науковий журнал
@uk
مجلة
@ar
name
Journal of Human Genetics
@ast
Journal of Human Genetics
@da
Journal of Human Genetics
@de
Journal of Human Genetics
@en
Journal of Human Genetics
@es
Journal of Human Genetics
@fi
Journal of Human Genetics
@fo
Journal of Human Genetics
@fr
Journal of Human Genetics
@is
Journal of Human Genetics
@it
type
label
Journal of Human Genetics
@ast
Journal of Human Genetics
@da
Journal of Human Genetics
@de
Journal of Human Genetics
@en
Journal of Human Genetics
@es
Journal of Human Genetics
@fi
Journal of Human Genetics
@fo
Journal of Human Genetics
@fr
Journal of Human Genetics
@is
Journal of Human Genetics
@it
prefLabel
Journal of Human Genetics
@ast
Journal of Human Genetics
@da
Journal of Human Genetics
@de
Journal of Human Genetics
@en
Journal of Human Genetics
@es
Journal of Human Genetics
@fi
Journal of Human Genetics
@fo
Journal of Human Genetics
@fr
Journal of Human Genetics
@is
Journal of Human Genetics
@it
P3181
P4616
P1055
P1058
P1144
sn98039238
P1156
P1159
P1160
J. Hum. Genet.
P1277
P1476
Journal of Human Genetics
@en
P236
P407
P495
P571
1956-01-01T00:00:00Z