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American Journal of Human Genetics|July 1, 1992
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophyY Mashima, A Murakami, R G Weleber, et al.American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.American Journal of Human Genetics|August 5, 2005
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationKym M Boycott, Shauna Flavelle, Alexandre Bureau, et al.American Journal of Human Genetics|August 5, 2005
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritisLindsay Gleghorn, Rajkumar Ramesar, Peter Beighton, et al.American Journal of Human Genetics|July 1, 1975
Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two familiesH H Ropers, P Burmeister, W v Petrykowski, et al.American Journal of Human Genetics|July 1, 1994
Heterogeneity analysis in 40 X-linked retinitis pigmentosa familiesP W Teague, M A Aldred, M Jay, et al.American Journal of Human Genetics|July 1, 1994
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1S W Scherer, P Poorkaj, T Allen, et al.American Journal of Human Genetics|July 1, 1994
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14P St George-Hyslop, E Rogaeva, J Huterer, et al.American Journal of Human Genetics|July 1, 1994
Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH studyS Munné, J Grifo, J Cohen, et al.American Journal of Human Genetics|July 1, 1994
Mutations participating in interallelic complementation in propionic acidemiaR A Gravel, B R Akerman, A M Lamhonwah, et al.Pageof 980