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11篇 您的检索式:作者名="Rozet JM"
    题名 作者 年代 出处 被引量
1Two novel missense mutations in the retinal degeneration slow/peripherin gene in two unrelated French patients with autosomal dominant retinitis pigmentosa显示文摘 Rozet JM Gerber S 1998Eur J Ophthalmol1998,,:1
2A gene for X-linked idio-pathic congenital nystagmus (NYS1)maps to chromosome Xp114~p113显示文摘Cabot A Rozet JM Gerber S 0,,04:1
3Severe manifestations in carrier females in X- linked retinitis pigmentosa显示文摘Souied E Segues B Ghazi I Rozet JM Chatelin S Gerber S 1997J Med Genet1997,34,:1
4Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis显示文摘 Rozet JM Calvas P 1996Nat Genet1996,14,:1
5The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal(Marranos) ,survivors from the spanish inquisitil显示文摘Gerber S Rozet JM Takezawa SI 2000Hum Genet2000,107,3:1
6Mutations of the retinal specific ATP binding transporter gene(ABGR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and stargardt disease: evidence of clinical heterogeneity at this locus显示文摘Rozet JM Gerber S Ghazi I 1999J Med Genet1999,36,6:1
7Severe manifestations in carrier females in X-linked retinitis pigmentosa显示文摘Souied E Segues B Ghazi I Rozet JM Chatelin S Gerber S 0,,:1
8A gene for Stargardt's disease ( fundus flavimaculatus) maps to the short arm of chromosome 1 显示文摘Kaplan J Gerber S Larget-Piet D Rozet JM Dollfus H Dufier JL 1993Nat Genet1993,5,3:1
9A gene for X-linkedi- dio-pathic congenital nystagmus (NYSI)maps to chromosome Xp114-113显示文摘Cabot A Rozet JM Gerber S 1999Am J Hum Genet1999,64,4:1
10Complete exon-intron structure of the retina-specific ATP-binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease显示文摘Gerber S Rozet JM van de Pol TJ 0,,:1
11Leber congenital amaurosis显示文摘Perrault I Rozet JM Gerber S 1999Mol Genet Metab1999,68,2:1
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