Výsledky vyhledávání - "Tapia, M. Cruz"

Akademický článek

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S mRNA gene in six Spanish families with non-syndromic hearing loss.

Autor: del Castillo, F.J., Rodríguez-Ballesteros, M., Martín, Y., Arellano, B., Gallo-Terán, J., Morales-Angulo, C., Ramírez-Camacho, R., Tapia, M. Cruz, Solanellas, J., Martínez-Conde, A., Villamar, M., Moreno-Pelayo, M.A., Moreno, F., del Castillo, I.

Publikováno v: Journal of Medical Genetics; Aug2003, Vol. 40 Issue 8, p632-636, 5p, 1 Diagram, 2 Graphs

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Periodical

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

Autor: Álvarez, Araceli, Castillo, Ignacio del, Pera, Alejandra, Villamar, Manuela, Moreno-Pelayo, Miguel A., Moreno, Felipe, Moreno, Ramón, Tapia, M. Cruz

Publikováno v: American Journal of Medical Genetics. Part A; 15 February 2003, Vol. 117 Issue: 1 p89-91, 3p

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Akademický článek

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Autor: Rodríguez-Ballesteros M; Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain., del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I

Publikováno v: Human mutation [Hum Mutat] 2003 Dec; Vol. 22 (6), pp. 451-6.

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Report

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

Autor: Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, Moreno R, Tapia MC

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Feb 15; Vol. 117A (1), pp. 89-91.

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