Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Orphanet Journal of Rare Diseases|March 29, 2025
Spanish consensus on managing pregnancy in women with Gaucher diseaseEnrique J Calderón, Alicia Rodríguez-Fernández, Irene Calderón-Baturone, et al.
Scientific Reports|January 9, 2021
Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia veraMiguel Piris-Villaespesa, Alberto Álvarez-Larrán, Adolfo Saez-Marín, et al.
BMC Genomics|April 11, 2024
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological studyMaría Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, et al.
Nature Genetics|June 29, 2006
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathySedigheh Delmaghani, Francisco J del Castillo, Vincent Michel, et al.
JIMD Reports|February 20, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panelGloria Muñoz, David García-Seisdedos, Crina Ciubotariu, et al.
Biomedicines|November 25, 2023
Novel Pathogenic Variants in the Gene Encoding Stereocilin (<i>STRC</i>) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean SubjectsMaría Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, et al.
Acta Dermato-Venereologica|September 18, 2023
Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing AlopeciaDavid Saceda-Corralo, Daniel Ortega-Quijano, Gloria Muñoz-Martín, et al.
Human Mutation|November 25, 2003
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)Montserrat Rodríguez-Ballesteros, Francisco J del Castillo, Yolanda Martín, et al.
Biomedicines|December 30, 2025
Abnormal Splicing of <i>GALC</i> Transcripts Underlies Unusual Cases of Krabbe DiseaseMaría Domínguez-Ruiz, Juan Luis Chico, Laura López-Marín, et al.
Biomedicines|October 28, 2023
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective StudySinziana Stanescu, Patricia Correcher Medina, Francisco J Del Castillo, et al.
Pageof 3