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rebecca valero
(1 results)?
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Genes (Basel). 2021 Nov 19;12(11):1824. doi: 10.3390/genes12111824.
Genes (Basel). 2021.
PMID: 34828430
Free PMC article.
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Toulis V, Cortés-González V, Castro-Miró M, Sallum JF, Català-Mora J, Villanueva-Mendoza C, Ciccioli M, Gonzàlez-Duarte R, Valero R, Marfany G.
Toulis V, et al. Among authors: valero r.
Genes (Basel). 2020 Mar 31;11(4):378. doi: 10.3390/genes11040378.
Genes (Basel). 2020.
PMID: 32244552
Free PMC article.
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Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.
Valero R, de Castro-Miró M, Jiménez-Ochoa S, Rodríguez-Ezcurra JJ, Marfany G, Gonzàlez-Duarte R.
Valero R, et al.
Genes (Basel). 2019 Sep 21;10(10):732. doi: 10.3390/genes10100732.
Genes (Basel). 2019.
PMID: 31546658
Free PMC article.
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The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.
Della Ragione F, Tiunova A, Vacca M, Strazzullo M, González E, Armstrong J, Valero R, Campanile C, Pineda M, Hulten M, Monros E, D'Esposito M, Prokhortchouk E.
Della Ragione F, et al. Among authors: valero r.
Gene. 2006 May 24;373:83-9. doi: 10.1016/j.gene.2006.01.015. Epub 2006 Mar 13.
Gene. 2006.
PMID: 16530985
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Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M.
Okamoto N, et al. Among authors: valero r.
J Hum Genet. 2004;49(6):334-337. doi: 10.1007/s10038-004-0153-4. Epub 2004 May 18.
J Hum Genet. 2004.
PMID: 15148591
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