Showing results (2921-2930 of 9,807) with videos related to

Sort By:
Pageof 981
American Journal of Human Genetics|February 1, 1991
Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1W J Herring, S Litwer, J L Weber, et al.
American Journal of Human Genetics|February 11, 1991
No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency allelesW J Xiong, W H Li, I Posner, et al.
American Journal of Human Genetics|March 1, 1993
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductionsA T Tharapel, K P Anderson, J L Simpson, et al.
American Journal of Human Genetics|April 1, 1993
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B geneC C Brooks, D R Tolan
American Journal of Human Genetics|May 1, 1994
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesA Reis, B Dittrich, V Greger, et al.
American Journal of Human Genetics|May 1, 1994
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implicationsJ Leana-Cox, L Jenkins, C G Palmer, et al.
American Journal of Human Genetics|May 1, 1994
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19M Kestilä, M Männikkö, C Holmberg, et al.
American Journal of Human Genetics|May 1, 1994
Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate regionI Lopes-Cendes, E Andermann, E Attig, et al.
American Journal of Human Genetics|May 1, 1994
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthaseB Thöny, W Leimbacher, N Blau, et al.
American Journal of Human Genetics|May 1, 1994
Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysisT Shimizu, J Toguchida, M V Kato, et al.
Pageof 981