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Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 4, p. 178, doi. 10.1007/s100380170085
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- Publication type:
- Article
Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 4, p. 241, doi. 10.1007/s100380170094
- By:
- Publication type:
- Article
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 2, p. 53, doi. 10.1007/s100380170108
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- Publication type:
- Article
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201102
- By:
- Publication type:
- Article
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
- Published in:
- 2005
- By:
- Publication type:
- Letter