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Year Number of Results
1996 24
1997 2
2001 1
2020 0
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27 results
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Page 1
Nomenclature for inherited diseases of the retina.
Inglehearn CF, Hardcastle AJ. Inglehearn CF, et al. Am J Hum Genet. 1996 Feb;58(2):433-5. Am J Hum Genet. 1996. PMID: 8571973 Free PMC article. No abstract available.
Establishing the robustness of short-tandem-repeat statistics for forensic applications.
Evett IW, Gill PD, Scrange JK, Weir BS. Evett IW, et al. Am J Hum Genet. 1996 Feb;58(2):398-407. Am J Hum Genet. 1996. PMID: 8571967 Free PMC article.
Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.
Ghosh SS, Fahy E, Bodis-Wollner I, Sherman J, Howell N. Ghosh SS, et al. Am J Hum Genet. 1996 Feb;58(2):325-34. Am J Hum Genet. 1996. PMID: 8571959 Free PMC article.
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC, Goldgar DE. Neuhausen SL, et al. Am J Hum Genet. 1996 Feb;58(2):271-80. Am J Hum Genet. 1996. PMID: 8571953 Free PMC article.
Multiple independent origins of the COII/tRNA(Lys) intergenic 9-bp mtDNA deletion in aboriginal Australians.
Betty DJ, Chin-Atkins AN, Croft L, Sraml M, Easteal S. Betty DJ, et al. Am J Hum Genet. 1996 Feb;58(2):428-33. Am J Hum Genet. 1996. PMID: 8571972 Free PMC article. No abstract available.
Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis.
Chung E, Curtis D, Chen G, Marsden PA, Twells R, Xu W, Gardiner M. Chung E, et al. Am J Hum Genet. 1996 Feb;58(2):363-70. Am J Hum Genet. 1996. PMID: 8571963 Free PMC article.
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
Milani N, Dalprá L, del Prete A, Zanini R, Larizza L. Milani N, et al. Am J Hum Genet. 1996 Feb;58(2):420-2. Am J Hum Genet. 1996. PMID: 8571969 Free PMC article. No abstract available.
Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.
Reynolds JE, Marazita ML, Meyer JM, Stevens CA, Eaves LJ, Arnos KS, Ploughman LM, MacLean C, Nance WE, Diehl SR. Reynolds JE, et al. Am J Hum Genet. 1996 Feb;58(2):384-92. Am J Hum Genet. 1996. PMID: 8571965 Free PMC article.
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Am J Hum Genet. 1996 Feb;58(2):255-62. Am J Hum Genet. 1996. PMID: 8571951 Free PMC article.
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
Watanabe M, Zingg BC, Mohrenweiser HW. Watanabe M, et al. Am J Hum Genet. 1996 Feb;58(2):308-16. Am J Hum Genet. 1996. PMID: 8571957 Free PMC article.
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