María Domínguez-Ruiz
9PUBLICATIONS
36CO-AUTHORS
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Publications (9)
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|Dec 30, 2025
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.María Domínguez-Ruiz, Juan Luis Chico, Laura López-Marín
|Sep 22, 2025
A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss.David Oaxaca-Castillo, Laura Taño-Portuondo, Montserrat Rodríguez-Ballesteros
|Jul 12, 2025
De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.María Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto
|Jan 08, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).Miloud Hammoud, María Domínguez-Ruiz, Imane Assiri
|Jul 27, 2024
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.María Domínguez-Ruiz, Margarita Olarte, Esther Onecha
|Apr 11, 2024
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras
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Frequent Collaborators
7 joint publications
Ignacio Del Castillo
5 joint publications
Miguel A Moreno-Pelayo
5 joint publications
Francisco J Del Castillo
3 joint publications
Matías Morín
2 joint publications
Cristóbal Colón
2 joint publications
Daniel Rodrigues
2 joint publications
Gema Garrido
1 joint publications
Patrizia Mancini
1 joint publications
Rosamaria Santarelli
1 joint publications
Paula I Buonfiglio
