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American Journal of Human Genetics|May 22, 2002
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1C Le Caignec, M Lefevre, J J Schott, et al.American Journal of Human Genetics|May 19, 2001
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancyL Claes, J Del-Favero, B Ceulemans, et al.American Journal of Human Genetics|May 19, 2001
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuriaM Janosík, J Oliveriusová, B Janosíková, et al.American Journal of Human Genetics|January 1, 1975
Unique phenotypic expression of glucosephosphate isomerase deficiencyD E Paglia, R Paredes, W N Valentine, et al.American Journal of Human Genetics|January 1, 1975
Hemoglobin Koya Dora: high frequency of a chain termination mutantW W De Jong, P Meera Khan, L F BerniniAmerican Journal of Human Genetics|July 1, 1975
Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysisA Freire-Maia, N Freire-Maia, N E Morton, et al.American Journal of Human Genetics|September 14, 2001
Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35L J Hocking, C A Herbert, R K Nicholls, et al.American Journal of Human Genetics|December 31, 2002
A whole-genome scan for obstructive sleep apnea and obesityLyle J Palmer, Sarah G Buxbaum, Emma Larkin, et al.American Journal of Human Genetics|January 15, 2003
Hierarchical modeling of linkage disequilibrium: genetic structure and spatial relationsDavid V Conti, John S WitteAmerican Journal of Human Genetics|February 11, 2003
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi JewsKazuhito Sugimura, Kent D Taylor, Ying-chao Lin, et al.Pageof 979