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American Journal of Human Genetics|November 1, 1993
Normal phenotype with paternal uniparental isodisomy for chromosome 21J L Blouin, D Avramopoulos, C Pangalos, et al.American Journal of Human Genetics|November 1, 1993
Molecular and statistical approaches to the detection and correction of errors in genotype databasesL M Brzustowicz, C Mérette, X Xie, et al.American Journal of Human Genetics|November 1, 1993
Genetic heterogeneity among blue-cone monochromatsJ Nathans, I H Maumenee, E Zrenner, et al.American Journal of Human Genetics|June 1, 1997
Expression of genes from the human active and inactive X chromosomesC J Brown, L Carrel, H F WillardAmerican Journal of Human Genetics|June 1, 1997
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaH Schumann, N Hammami-Hauasli, L Pulkkinen, et al.American Journal of Human Genetics|June 1, 1997
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approachB Peral, V Gamble, C Strong, et al.American Journal of Human Genetics|June 1, 1994
Four novel PEPD alleles causing prolidase deficiencyP Ledoux, C Scriver, P HechtmanAmerican Journal of Human Genetics|June 1, 1994
A common mutation associated with the Duarte galactosemia alleleL J Elsas, P P Dembure, S Langley, et al.American Journal of Human Genetics|June 1, 1994
Detection of tandem duplications and implications for linkage analysisT C Matise, A Chakravarti, P I Patel, et al.American Journal of Human Genetics|July 1, 1997
First-meiotic-division nondisjunction in human oocytesR AngellPageof 980