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American Journal of Human Genetics|December 23, 2006
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutationsLuis Carlos López, Markus Schuelke, Catarina M Quinzii, et al.
American Journal of Human Genetics|December 23, 2006
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy lociLuigi Bisceglia, Giuseppina Cerullo, Paola Forabosco, et al.
American Journal of Human Genetics|September 1, 1991
The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular originG R Skuse, B A Kosciolek, P T Rowley
American Journal of Human Genetics|December 13, 2006
A mitochondrial stratigraphy for island southeast AsiaCatherine Hill, Pedro Soares, Maru Mormina, et al.
American Journal of Human Genetics|December 13, 2006
X-APL: an improved family-based test of association in the presence of linkage for the X chromosomeRen-Hua Chung, Richard W Morris, Li Zhang, et al.
American Journal of Human Genetics|December 13, 2006
A comprehensive analysis of common copy-number variations in the human genomeKendy K Wong, Ronald J deLeeuw, Nirpjit S Dosanjh, et al.
American Journal of Human Genetics|December 13, 2006
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationM Upadhyaya, S M Huson, M Davies, et al.
American Journal of Human Genetics|December 13, 2006
Genotype x adiposity interaction linkage analyses reveal a locus on chromosome 1 for lipoprotein-associated phospholipase A2, a marker of inflammation and oxidative stressVincent P Diego, David L Rainwater, Xing-Li Wang, et al.
American Journal of Human Genetics|December 13, 2006
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir Baala, Stephane Romano, Rana Khaddour, et al.
American Journal of Human Genetics|August 19, 2007
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypesE Aït Yahya-Graison, J Aubert, L Dauphinot, et al.
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