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American Journal of Human Genetics|October 31, 2000
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotypeG A Bellus, E B Spector, P W Speiser, et al.American Journal of Human Genetics|November 14, 2001
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18qCollette K Hand, Jawad Khoris, François Salachas, et al.American Journal of Human Genetics|November 13, 2001
Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of associationH J Tsai, G Sun, D E Weeks, et al.American Journal of Human Genetics|November 13, 2001
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 geneD Kaufmann, R Müller, B Bartelt, et al.American Journal of Human Genetics|July 14, 2001
Functional complementation of a genetic deficiency with human artificial chromosomesJ E Mejía, A Willmott, E Levy, et al.American Journal of Human Genetics|July 14, 2001
A genomewide screen for autism susceptibility lociJ Liu, D R Nyholt, P Magnussen, et al.American Journal of Human Genetics|September 5, 2001
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2L S Schmidt, M B Warren, M L Nickerson, et al.American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.American Journal of Human Genetics|October 25, 2001
The origin of abnormalities in recurrent aneuploidy/polyploidyW P Robinson, D E McFadden, M D StephensonAmerican Journal of Human Genetics|January 3, 2001
Y-chromosome lineages trace diffusion of people and languages in southwestern AsiaL Quintana-Murci, C Krausz, T Zerjal, et al.Pageof 980