María Domínguez-Ruiz

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 11

Top Topics

Dna Methylation

Spectrum Disorder

Top Venues

This page only lists publications with an associated author ORCID identifier.

Publications

María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castillo
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 15 (7) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castillo
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 15 (7) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castillo
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 15 (7) (2024)
María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Ana Belén Elgoyhen, Francisco J Del Castillo, Viviana Dalamón, Ignacio Del Castillo
Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects. Biomedicines 11 (11) (2023)
María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D Rendtorff, Miguel Angel Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio Del Castillo
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. Genes 13 (1) (2022)
Ignacio Del Castillo, Matias Morín, María Domínguez-Ruiz, Miguel Angel Moreno-Pelayo
Genetic etiology of non-syndromic hearing loss in Europe. Human genetics 141 (3-4) (2022)