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American Journal of Human Genetics|September 1, 1990
HLA-DQ alpha allele and genotype frequencies in various human populations, determined by using enzymatic amplification and oligonucleotide probesR Helmuth, N Fildes, E Blake, et al.American Journal of Human Genetics|September 1, 1990
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneityD H Lester, C F Inglehearn, R Bashir, et al.American Journal of Human Genetics|August 13, 2013
Mapping the human reference genome's missing sequence by three-way admixture in Latino genomesGiulio Genovese, Robert E Handsaker, Heng Li, et al.American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.American Journal of Human Genetics|May 14, 2011
Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter riskAlexander Teumer, Rajesh Rawal, Georg Homuth, et al.American Journal of Human Genetics|April 1, 1990
Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndromeM Godfrey, S Olson, R G Burgio, et al.American Journal of Human Genetics|October 11, 2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, et al.American Journal of Human Genetics|October 4, 2011
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcriptionDavid Zangen, Yotam Kaufman, Sharon Zeligson, et al.American Journal of Human Genetics|August 2, 2011
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotypeMaría Palomares, Alicia Delicado, Elena Mansilla, et al.American Journal of Human Genetics|October 15, 2011
Mutation altering the miR-184 seed region causes familial keratoconus with cataractAnne E Hughes, Declan T Bradley, Malcolm Campbell, et al.Pageof 979