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American Journal of Human Genetics|February 15, 2002
Ethnic-difference markers for use in mapping by admixture linkage disequilibriumHeather E Collins-Schramm, Carolyn M Phillips, Darwin J Operario, et al.
American Journal of Human Genetics|December 31, 2005
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyriaLaurent Gouya, Caroline Martin-Schmitt, Anne-Marie Robreau, et al.
American Journal of Human Genetics|December 31, 2005
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexiaJohannes Schumacher, Heidi Anthoni, Faten Dahdouh, et al.
American Journal of Human Genetics|December 31, 2005
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2Luca Cartegni, Michelle L Hastings, John A Calarco, et al.
American Journal of Human Genetics|December 31, 2005
Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependenceAnthony L Hinrichs, Jen C Wang, Bernd Bufe, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing lossHashem Shahin, Tom Walsh, Tama Sobe, et al.
American Journal of Human Genetics|December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Neil V Morgan, Shanaz Pasha, Colin A Johnson, et al.
American Journal of Human Genetics|December 5, 1998
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?J R Forbes, D W Cox
American Journal of Human Genetics|December 5, 1998
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndromeR A Montgomery, M T Geraghty, E Bull, et al.
American Journal of Human Genetics|December 5, 1998
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31H Feit, A Silbergleit, L B Schneider, et al.
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