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American Journal of Human Genetics|July 27, 1999
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutationU Schwarze, B J Starman, P H Byers
American Journal of Human Genetics|July 27, 1999
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assayL Forestier, G Jean, M Attard, et al.
American Journal of Human Genetics|July 27, 1999
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3P F Worth, P Giunti, C Gardner-Thorpe, et al.
American Journal of Human Genetics|July 27, 1999
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993S L White, V R Collins, R Wolfe, et al.
American Journal of Human Genetics|July 27, 1999
A genomic screen of autism: evidence for a multilocus etiologyN Risch, D Spiker, L Lotspeich, et al.
American Journal of Human Genetics|December 1, 1999
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia BF Giannelli, T Anagnostopoulos, P M Green
American Journal of Human Genetics|December 1, 1999
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) familiesT H Shaikh, M L Budarf, L Celle, et al.
American Journal of Human Genetics|December 1, 1999
Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosomeE Bosch, F Calafell, F R Santos, et al.
American Journal of Human Genetics|December 1, 1999
Localization of a gene for Duane retraction syndrome to chromosome 2q31B Appukuttan, E Gillanders, S H Juo, et al.
American Journal of Human Genetics|December 1, 1999
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigreesN Katsanis, R A Lewis, D W Stockton, et al.
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