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American Journal of Human Genetics|May 1, 1993
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicismC Lavedan, H Hofmann-Radvanyi, P Shelbourne, et al.American Journal of Human Genetics|June 1, 1993
Some developments on the affected-pedigree-member method of linkage analysisP J WardAmerican Journal of Human Genetics|February 1, 1993
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomesC Oudet, E Mornet, J L Serre, et al.American Journal of Human Genetics|November 1, 1976
A note on the distribution of the number of exclusions to be expected in paternity testingR Chakraborty, W J SchullAmerican Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.American Journal of Human Genetics|April 10, 2002
Krit1 missense mutations lead to splicing errors in cerebral cavernous malformationDominique J Verlaan, Adrian M Siegel, Guy A RouleauAmerican Journal of Human Genetics|May 7, 2002
Systematic evaluation of map quality: human chromosome 22Tara C Matise, Christopher J Porter, Steven Buyske, et al.American Journal of Human Genetics|May 7, 2002
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndromeMaria Zeniou, Solange Pannetier, Jean-Pierre Fryns, et al.American Journal of Human Genetics|May 7, 2002
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromesCatherine Dodé, Nathalie Le Dû, Laurence Cuisset, et al.American Journal of Human Genetics|May 7, 2002
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer, Beverly M Yashar, Elena Filippova, et al.Pageof 980