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Clinical Genetics|June 18, 2004
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defectsS H Shim, H E Wyandt, D M McDonald-McGinn, et al.Clinical Genetics|June 18, 2004
De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndromeI Hernan, I Roig, B Martin, et al.Clinical Genetics|April 22, 2004
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafnessD Shears, H Conlon, T Murakami, et al.Clinical Genetics|April 22, 2004
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemiaT P LerenClinical Genetics|July 16, 2004
Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer familiesI Thiffault, W D Foulkes, V A Marcus, et al.Clinical Genetics|July 16, 2004
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafnessP Seeman, M Malíková, D Rasková, et al.Clinical Genetics|December 1, 1992
Autosomal recessive gingival fibromatosis with distinctive faciesJ Goldblatt, S L SingerClinical Genetics|April 1, 1992
Detection of subtle reciprocal translocations by fluorescence in situ hybridizationF Speleman, N Van Roy, J Wiegant, et al.Clinical Genetics|April 1, 1992
Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformationsP Petit, P Moerman, J P FrynsClinical Genetics|April 1, 1992
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of QuébecJ Bergeron, T Normand, A Bharucha, et al.Pageof 718