Showing results (1601-1610 of 9,792) with videos related to
Sort By:
Pageof 980
American Journal of Human Genetics|January 1, 1995
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiencyN Raben, R Exelbert, R Spiegel, et al.American Journal of Human Genetics|January 1, 1995
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemiaA M Engbersen, D G Franken, G H Boers, et al.American Journal of Human Genetics|January 1, 1995
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndromeB C Broughton, A F Thompson, S A Harcourt, et al.American Journal of Human Genetics|January 1, 1995
Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneityS Gispert, N Santos, R Damen, et al.American Journal of Human Genetics|January 1, 1995
Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414A Sander, J C Murray, T Scherpbier-Heddema, et al.American Journal of Human Genetics|January 1, 1995
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic areaU Heinisch, J Zlotogora, S Kafert, et al.American Journal of Human Genetics|January 1, 1995
Two new cases of FMR1 deletion associated with mental impairmentM Hirst, P Grewal, A Flannery, et al.American Journal of Human Genetics|January 1, 1995
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsiesD Lorenzetti, D Pareyson, A Sghirlanzoni, et al.American Journal of Human Genetics|January 1, 1995
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy familiesM Zatz, S K Marie, M R Passos-Bueno, et al.American Journal of Human Genetics|July 1, 1993
Transforming growth factor-alpha: characterization of the BamHI, RsaI, and TaqI polymorphic regionsJ F Qian, J Feingold, C Stoll, et al.Pageof 980