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J del Castillo

Showing results (161-170 of 175) with videos related to

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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.
ACS Nano|November 6, 2025
The Structure and Morphology of Single-Component Oligomeric RNA Delivery Vectors Derived from Amphiphilic Charge-Altering Releasable TransportersPaul Joshua Hurst, Yuan Jia, Summer Ramsay-Burrough, et al.
Health Science Reports|March 6, 2023
Impact of access to treatment on patient-reported outcomes among rheumatoid arthritis patients with tDMARDs and bDMARDS in two Latin-American countries: A prospective observational studyJuan M Reyes, Magda V Gutierrez-Ardila, Hugo Madariaga, 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.
Journal of Medical Genetics|August 16, 2003
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing lossF J del Castillo, M Rodríguez-Ballesteros, Y 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.
Experimental Hematology|January 29, 1999
The prolonged hematologic effects of a single injection of PEG-rHuMGDF in normal and thrombocytopenic miceT R Ulich, J del Castillo, G Senaldi, et al.
Pageof 18

Showing results (161-170 of 175) with videos related to

Sort By:
Pageof 18
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.
ACS Nano|November 6, 2025
The Structure and Morphology of Single-Component Oligomeric RNA Delivery Vectors Derived from Amphiphilic Charge-Altering Releasable TransportersPaul Joshua Hurst, Yuan Jia, Summer Ramsay-Burrough, et al.
Health Science Reports|March 6, 2023
Impact of access to treatment on patient-reported outcomes among rheumatoid arthritis patients with tDMARDs and bDMARDS in two Latin-American countries: A prospective observational studyJuan M Reyes, Magda V Gutierrez-Ardila, Hugo Madariaga, 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.
Journal of Medical Genetics|August 16, 2003
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing lossF J del Castillo, M Rodríguez-Ballesteros, Y 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.
Experimental Hematology|January 29, 1999
The prolonged hematologic effects of a single injection of PEG-rHuMGDF in normal and thrombocytopenic miceT R Ulich, J del Castillo, G Senaldi, et al.
Pageof 18