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American Journal of Human Genetics|January 16, 2002
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeKinji Ohno, Andrew G Engel, Xin-Ming Shen, et al.American Journal of Human Genetics|January 16, 2002
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouseHanlin Gao, Rose-Mary N Boustany, Janice A Espinola, et al.American Journal of Human Genetics|January 16, 2002
Detection and integration of genotyping errors in statistical geneticsEric Sobel, Jeanette C Papp, Kenneth LangeAmerican Journal of Human Genetics|January 19, 2002
Evidence for a susceptibility gene for anorexia nervosa on chromosome 1D E Grice, K A Halmi, M M Fichter, et al.American Journal of Human Genetics|January 19, 2002
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricleElizabeth Goldmuntz, Richard Bamford, Jayaprakash D Karkera, et al.American Journal of Human Genetics|January 19, 2002
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseAnnachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, et al.American Journal of Human Genetics|January 10, 2002
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and AfricansNurit Rosenberg, Mitsuru Murata, Yasuo Ikeda, et al.American Journal of Human Genetics|November 1, 1979
Carbonic anhydrase-I polymorphism in a Philippine aboriginal populationK OmotoAmerican Journal of Human Genetics|December 1, 2001
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyDebra A Thompson, Christina L McHenry, Yun Li, et al.American Journal of Human Genetics|December 4, 2001
Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22Jeffrey A Bailey, Amy M Yavor, Luigi Viggiano, et al.Pageof 979