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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.

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.

Investigative Ophthalmology & Visual Science|October 25, 2014

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies familiesRocío Sánchez-Alcudia, Marta Cortón, Almudena Ávila-Fernández, et al.

American Journal of Human Genetics|November 6, 2012

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit Schraders, Laura Ruiz-Palmero, Ersan Kalay, et al.

American Journal of Human Genetics|October 23, 2003

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio Del Castillo, Miguel A Moreno-Pelayo, Francisco J Del Castillo, et al.

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Showing results (121-130 of 127) with videos related to

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You have reached the last page of results.This site can display upto 127 results.

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.

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.

Investigative Ophthalmology & Visual Science|October 25, 2014

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies familiesRocío Sánchez-Alcudia, Marta Cortón, Almudena Ávila-Fernández, et al.

American Journal of Human Genetics|November 6, 2012

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit Schraders, Laura Ruiz-Palmero, Ersan Kalay, et al.

American Journal of Human Genetics|October 23, 2003

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio Del Castillo, Miguel A Moreno-Pelayo, Francisco J Del Castillo, et al.

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