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American Journal of Human Genetics|August 2, 2002
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndromeSara Shanske, Yingying Tang, Michio Hirano, et al.
American Journal of Human Genetics|September 13, 2002
Elevated minisatellite mutation rate in the post-chernobyl families from ukraineYuri E Dubrova, Gemma Grant, Anatoliy A Chumak, et al.
American Journal of Human Genetics|August 28, 2002
Neocentromeres: role in human disease, evolution, and centromere studyDavid J Amor, K H Andy Choo
American Journal of Human Genetics|September 3, 2002
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionEdgar Otto, Julia Hoefele, Rainer Ruf, et al.
American Journal of Human Genetics|December 19, 2002
Distribution patterns of postmortem damage in human mitochondrial DNAM Thomas P Gilbert, Eske Willerslev, Anders J Hansen, et al.
American Journal of Human Genetics|February 13, 2003
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone densityLiesbeth Van Wesenbeeck, Erna Cleiren, Jeppe Gram, et al.
American Journal of Human Genetics|January 17, 2003
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin, W Ted Brown, Anne Glicksman, et al.
American Journal of Human Genetics|January 24, 2003
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastomaSuzanne Richter, Kirk Vandezande, Ning Chen, et al.
American Journal of Human Genetics|January 31, 2003
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeatsHiroki Kurahashi, Tamim Shaikh, Masayuki Takata, et al.
American Journal of Human Genetics|February 5, 2003
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2José L Badano, Stephen J Ansley, Carmen C Leitch, et al.
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