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American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
American Journal of Human Genetics|December 17, 2009
Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selectionSteve Rozen, Janet D Marszalek, Raaji K Alagappan, et al.
American Journal of Human Genetics|August 1, 1993
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregationC J Danpure, P E Purdue, P Fryer, et al.
American Journal of Human Genetics|August 1, 1993
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndromeM Godfrey, N Vandemark, M Wang, et al.
American Journal of Human Genetics|September 1, 1993
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)B S Andresen, P Bross, T G Jensen, et al.
American Journal of Human Genetics|October 1, 1993
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)R Shiang, A C Lidral, H H Ardinger, et al.
American Journal of Human Genetics|March 1, 1994
Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twinsH Kruyer, M Milà, G Glover, et al.
American Journal of Human Genetics|March 1, 1994
Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15D M Milewicz, M Duvic
American Journal of Human Genetics|March 1, 1994
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophyL M Brzustowicz, B A Allitto, D Matseoane, et al.
American Journal of Human Genetics|March 1, 1994
Robust variance-components approach for assessing genetic linkage in pedigreesC I Amos
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