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Clinical Genetics|January 26, 2007
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1S Kitajiri, T Makishima, T B Friedman, et al.Clinical Genetics|January 26, 2007
A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WASA K Dobbs, T Yang, D M Farmer, et al.Clinical Genetics|January 26, 2007
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial featuresA Alberti, C Romano, M Falco, et al.Clinical Genetics|February 21, 2007
Managing genetic discrimination: strategies used by individuals found to have the Huntington disease mutationY Bombard, E Penziner, J Decolongon, et al.Clinical Genetics|February 21, 2007
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancerL Valle, P Carbonell, V Fernandez, et al.Clinical Genetics|February 21, 2007
Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysisW G Newman, S Hamilton, J Ayres, et al.Clinical Genetics|November 1, 1975
Two cases of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) associated with hGH deficiency and marginal impairment of other hypothalamic-pituitary functionsM Faggiano, M Minozzi, G Lombardi, et al.Clinical Genetics|November 15, 2006
A gift or a yoke? Women's and men's responses to genetic risk information from BRCA1 and BRCA2 testingL d'Agincourt-CanningClinical Genetics|April 1, 1991
The delta F508 mutation in mild adult forms of cystic fibrosis (CF)B Simon-Bouy, E Mornet, A Taillandier, et al.Pageof 718