Search Results - "Aparisi, M J"

Functional analysis of splicing mutations in MYO7A and USH2A genes by Jaijo, T, Aller, E, Aparisi, MJ, García-García, G, Hernan, I, Gamundi, MJ, Nájera, C, Carballo, M, Millán, JM

“…Jaijo T, Aller E, Aparisi MJ, García‐García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM. Functional analysis of splicing mutations in MYO7A and…”
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Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families by Hernández, V, Pascual-Camps, I, Aparisi, M J, Martínez-Matilla, M, Martínez, F, Cerón, J A, Pedrola, L

“…: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the gene. Clinical manifestations include congenital cataracts,…”
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Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin by Aller, Elena, Jaijo, Teresa, van Wijk, Erwin, Ebermann, Inga, Kersten, Ferry, García-García, Gema, Voesenek, Krysta, Aparisi, María José, Hoefsloot, Lies, Cremers, Cor, Díaz-Llopis, Manuel, Pennings, Ronald, Bolz, Hanno J, Kremer, Hannie, Millán, José M

“…It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss…”
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Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families by Hernández, V., Pascual-Camps, I., Aparisi, M. J., Martínez-Matilla, M., Martínez, F., Cerón, J. A, Pedrola, L.

“…Background: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the NHS gene. Clinical manifestations include congenital…”
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Novel mutations in the USH1C gene in Usher syndrome patients by Aparisi, María José, García-García, Gema, Jaijo, Teresa, Rodrigo, Regina, Graziano, Claudio, Seri, Marco, Simsek, Tulay, Simsek, Enver, Bernal, Sara, Baiget, Montserrat, Pérez-Garrigues, Herminio, Aller, Elena, Millán, José María

“…Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and…”
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