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American Journal of Human Genetics|May 1, 1985
Tourette syndrome: clinical and psychological aspects of 250 casesD E Comings, B G Comings
American Journal of Human Genetics|July 1, 1991
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemiaJ Vockley, B Parimoo, K Tanaka
American Journal of Human Genetics|July 1, 1991
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samplesS M Forrest, H H Dahl, D W Howells, et al.
American Journal of Human Genetics|July 1, 1991
Complementation and maternal effect in insulin-dependent diabetesF Clerget-Darpoux, M C Babron, I Deschamps, et al.
American Journal of Human Genetics|July 1, 1991
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studiesA H Beggs, E P Hoffman, J R Snyder, et al.
American Journal of Human Genetics|July 1, 1991
Evidence that a single gene with gender- and age-dependent effects influences systolic blood pressure determination in a population-based sampleL Pérusse, P P Moll, C F Sing
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
American Journal of Human Genetics|October 19, 2010
A genome-wide study reveals copy number variants exclusive to childhood obesity casesJoseph T Glessner, Jonathan P Bradfield, Kai Wang, et al.
American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
American Journal of Human Genetics|September 28, 2010
Inference of unexpected genetic relatedness among individuals in HapMap Phase IIITrevor J Pemberton, Chaolong Wang, Jun Z Li, et al.
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