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American Journal of Human Genetics|July 1, 1976
Alpha 1 antitrypsin M1: a new common genetically determined variantF KueppersAmerican Journal of Human Genetics|October 16, 1999
A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11E Reyniers, P Van Bogaert, N Peeters, et al.American Journal of Human Genetics|May 20, 1999
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorderD E Sleat, R M Gin, I Sohar, et al.American Journal of Human Genetics|May 20, 1999
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndromeM Bamshad, T Le, W S Watkins, et al.American Journal of Human Genetics|May 20, 1999
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factorS Mardy, Y Miura, F Endo, et al.American Journal of Human Genetics|May 20, 1999
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsM T Bassi, R S Ramesar, B Caciotti, et al.American Journal of Human Genetics|May 20, 1999
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequencesS N Teraoka, M Telatar, S Becker-Catania, et al.American Journal of Human Genetics|May 20, 1999
High rate of mosaicism in tuberous sclerosis complexS Verhoef, L Bakker, A M Tempelaars, et al.American Journal of Human Genetics|May 20, 1999
Germ-cell nondisjunction in testes biopsies of men with idiopathic infertilityW J Huang, D J Lamb, E D Kim, et al.American Journal of Human Genetics|May 20, 1999
Identification of a new locus for medullary cystic disease, on chromosome 16p12F Scolari, D Puzzer, A Amoroso, et al.Pageof 981