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American Journal of Human Genetics|April 1, 1990
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlationX Y Hu, P N Ray, E G Murphy, et al.
American Journal of Human Genetics|June 12, 2012
Family-based association studies for next-generation sequencingYun Zhu, Momiao Xiong
American Journal of Human Genetics|June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylationFrançois Foulquier, Mustapha Amyere, Jaak Jaeken, et al.
American Journal of Human Genetics|May 29, 2012
Inclusion of gene-gene and gene-environment interactions unlikely to dramatically improve risk prediction for complex diseasesHugues Aschard, Jinbo Chen, Marilyn C Cornelis, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
American Journal of Human Genetics|May 22, 2012
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndromeGeert Vandeweyer, Nathalie Van der Aa, Edwin Reyniers, et al.
American Journal of Human Genetics|July 1, 1979
SV40 T-antigen expression in cultured fibroblasts from patients with Down syndrome and their parentsA S Lubiniecki, W A Blattner, G M Martin, et al.
American Journal of Human Genetics|April 24, 2012
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasisCatherine T Jordan, Li Cao, Elisha D O Roberson, et al.
American Journal of Human Genetics|September 1, 1990
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)U Francke, C L Hsieh, B E Foellmer, et al.
American Journal of Human Genetics|September 1, 1990
The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridizationD F Callen, C J Freemantle, M L Ringenbergs, et al.
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