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J del Castillo

Showing results (171-180 of 175) with videos related to

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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.
Journal of Medical Genetics|July 5, 2005
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentF J del Castillo, M Rodríguez-Ballesteros, A Alvarez, et al.
Pageof 18

Showing results (171-180 of 175) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 175 results.
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.
Journal of Medical Genetics|July 5, 2005
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentF J del Castillo, M Rodríguez-Ballesteros, A Alvarez, et al.
Pageof 18