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Clinical Genetics|September 1, 1996
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotypeF F Ozkinay, M Akisü, N Kültürsay, et al.Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.Clinical Genetics|June 1, 1996
Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO familyA Sensi, G Cocchi, A Martini, et al.Clinical Genetics|June 1, 1996
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type IIM G Ausems, M A Kroos, M Van der Kraan, et al.Clinical Genetics|November 1, 1995
Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sitesT Maeda, K Sato, H Minami, et al.Clinical Genetics|November 1, 1995
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndromeA E Turco, S Rossetti, M O Biasi, et al.Clinical Genetics|November 1, 1995
Christian's spondylo-digital syndrome: second familial caseD García-Cruz, J M Cantú, F J García-Martínez, et al.Clinical Genetics|December 1, 1977
Trisomy 4p: five new observations and overviewB Dallapiccola, P P Mastroiacovo, E Montali, et al.Clinical Genetics|June 1, 1978
Genetic epidemiology of an institutionalized cohort of mental retardatesN E Morton, J Matsuura, R Bart, et al.Pageof 719