Found: 13
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Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 118, doi. 10.1111/cge.12758
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- Article
Gene Therapy for Retinal Degeneration.
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- Ophthalmic Research, 1997, v. 29, n. 5, p. 261, doi. 10.1159/000268024
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- Article
Increasing Bioavailability of Phosphorus from Fly Ash through Vermicomposting.
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- Journal of Environmental Quality, 2002, v. 31, n. 6, p. 2116, doi. 10.2134/jeq2002.2116
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- Article
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
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- Eye, 2004, v. 18, n. 7, p. 723, doi. 10.1038/sj.eye.6701313
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- Article
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.
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- Human Molecular Genetics, 2004, v. 13, n. 9, p. 945, doi. 10.1093/hmg/ddh110
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- Article
Variation in DNA Polymorphisms of the Short Arm of the Human X Chromosome: Genetic Affinity of Parsi from Western India.
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- Human Heredity, 1993, v. 43, n. 4, p. 239, doi. 10.1159/000154137
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- Article
DNA Polymorphisms, Identified by an X-Chromosome Short-Arm Probe L 1.28 (DXS7), in Different Racial Groups.
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- Human Heredity, 1988, v. 38, n. 2, p. 72, doi. 10.1159/000153761
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- Article
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1203
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- Article
Dinucleotide repeat polymorphism at the DXS977 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1030
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- Article
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 205
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- Article
Dinucleotide repeat polymorphism at the DXS573 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 92
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- Article
Two dinucleotide repeat polymorphisms at the DXS571 locus.
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- Human Molecular Genetics, 1992, v. 1, n. 9, p. 776
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- Article
Dinucleotide repeat polymorphism at the DXS559 locus.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 9, p. 778
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- Article