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Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.
Fuchs S, Kellner U, Wedemann H, Gal A. Fuchs S, et al. Among authors: wedemann h. Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312. Hum Mutat. 1995. PMID: 8535448 No abstract available.
Analysis of sex and delta F508 in single amniocytes using primer extension preamplification.
Schaaff F, Wedemann H, Schwinger E. Schaaff F, et al. Among authors: wedemann h. Hum Genet. 1996 Aug;98(2):158-61. doi: 10.1007/s004390050180. Hum Genet. 1996. PMID: 8698332
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A. Fuchs S, et al. Among authors: wedemann h. Hum Mol Genet. 1994 Oct;3(10):1903-5. doi: 10.1093/hmg/3.10.1903. Hum Mol Genet. 1994. PMID: 7849723 No abstract available.
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
Fuchs S, Xu SY, Caballero M, Salcedo M, La O A, Wedemann H, Gal A. Fuchs S, et al. Among authors: wedemann h. Hum Mol Genet. 1994 Apr;3(4):655-6. doi: 10.1093/hmg/3.4.655. Hum Mol Genet. 1994. PMID: 8069314 No abstract available.
Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.
Bunge S, Wedemann H, David D, Terwilliger DJ, van den Born LI, Aulehla-Scholz C, Samanns C, Horn M, Ott J, Schwinger E, et al. Bunge S, et al. Among authors: wedemann h. Genomics. 1993 Jul;17(1):230-3. doi: 10.1006/geno.1993.1309. Genomics. 1993. PMID: 8406457
Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.
Kremmer S, Eckstein A, Gal A, Apfelstedt-Sylla E, Wedemann H, Rüther K, Zrenner E. Kremmer S, et al. Among authors: wedemann h. Graefes Arch Clin Exp Ophthalmol. 1997 Sep;235(9):575-83. doi: 10.1007/BF00947087. Graefes Arch Clin Exp Ophthalmol. 1997. PMID: 9342608
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: wedemann h. Br J Ophthalmol. 1995 Jan;79(1):28-34. doi: 10.1136/bjo.79.1.28. Br J Ophthalmol. 1995. PMID: 7880786 Free PMC article.
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.
Millán JM, Fuchs S, Paricio N, Wedemann H, Gal A, Nájera C, Prieto F. Millán JM, et al. Among authors: wedemann h. Mol Cell Probes. 1995 Feb;9(1):67-9. doi: 10.1016/s0890-8508(95)91052-2. Mol Cell Probes. 1995. PMID: 7760863
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