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American Journal of Human Genetics|February 12, 2013
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinismKaren Grønskov, Christopher M Dooley, Elsebet Østergaard, et al.American Journal of Human Genetics|May 1, 1990
The gene for the alpha polypeptide of pyruvate dehydrogenase is X-linked in humansP Szabo, K F Sheu, R M Robinson, et al.American Journal of Human Genetics|May 1, 1990
Molecular studies of DiGeorge syndromeW J Fibison, M Budarf, H McDermid, et al.American Journal of Human Genetics|May 1, 1990
Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG)C P Nogueira, M C McGuire, C Graeser, et al.American Journal of Human Genetics|June 1, 1990
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parentG A Wallis, B J Starman, A B Zinn, et al.American Journal of Human Genetics|June 1, 1990
Theoretical underpinning of the single-molecule-dilution (SMD) method of direct haplotype resolutionJ C Stephens, J Rogers, G RuanoAmerican Journal of Human Genetics|June 1, 1990
Sequence data of the rare deficient alpha 1-antitrypsin variant PI ZaugsburgJ P Faber, S Weidinger, K OlekAmerican Journal of Human Genetics|February 5, 2013
Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factorsOle A Andreassen, Srdjan Djurovic, Wesley K Thompson, et al.American Journal of Human Genetics|January 29, 2013
Genetic basis of Y-linked hearing impairmentQiuju Wang, Yali Xue, Yujun Zhang, et al.American Journal of Human Genetics|February 26, 2013
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth diseaseBing-Wen Soong, Yen-Hua Huang, Pei-Chien Tsai, et al.Pageof 980