Found: 6
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Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 98, doi. 10.1034/j.1399-0004.1999.560116.x
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- Article
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 407, doi. 10.1038/sj.ejhg.5201138
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- Article
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 687, doi. 10.1038/sj.ejhg.5200352
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- Article
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 159, doi. 10.1002/humu.20394
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- Article
Mutations in Myosin VIIA ( MYO7A) and Usherin ( USH2A) in Spanish patients with usher syndrome types I and II, respectively.
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- Human Mutation, 2002, v. 20, n. 1, p. 76, doi. 10.1002/humu.9042
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- Article
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 321, doi. 10.1002/humu.1380030326
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- Article