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American Journal of Human Genetics|November 11, 1992
DNA polymorphism analysis in families with recurrence of free trisomy 21C G Pangalos, C C Talbot, J G Lewis, et al.American Journal of Human Genetics|November 1, 1992
Structure and chromosomal localization of the human antidiuretic hormone receptor geneA Seibold, P Brabet, W Rosenthal, et al.American Journal of Human Genetics|November 1, 1992
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndromeA H Carey, D Kelly, S Halford, et al.American Journal of Human Genetics|October 28, 2005
High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPsHoward R Slater, Dione K Bailey, Hua Ren, et al.American Journal of Human Genetics|October 28, 2005
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosaAnna M G Pasmooij, Hendri H Pas, Franciska C L Deviaene, et al.American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.American Journal of Human Genetics|October 28, 2005
Evidence for widespread reticulate evolution within human dupliconsMichael S Jackson, Karen Oliver, Jane Loveland, et al.American Journal of Human Genetics|October 28, 2005
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutantsMehrdad Khajavi, Ken Inoue, Wojciech Wiszniewski, et al.American Journal of Human Genetics|February 2, 2010
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemiaLeana Doherty, Mee Rie Sheen, Adrianna Vlachos, et al.American Journal of Human Genetics|February 2, 2010
The distribution and most recent common ancestor of the 17q21 inversion in humansMichael P Donnelly, Peristera Paschou, Elena Grigorenko, et al.Pageof 979