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F Blanco-Kelly

Showing results (1-10 of 10) with videos related to

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Archivos De La Sociedad Espanola De Oftalmologia|April 20, 2013
Guidelines for genetic study of aniridiaF Blanco-Kelly, C Villaverde-Montero, I Lorda-Sánchez, et al.
Clinical Genetics|October 11, 2011
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosaI Hernan, M J Gamundi, E Borràs, et al.
Archivos De La Sociedad Espanola De Oftalmologia|November 27, 2021
Genetics and epidemiology of aniridia: Updated guidelines for genetic studyF Blanco-Kelly, M Tarilonte, M Villamar, et al.
Archivos De La Sociedad Espanola De Oftalmologia|July 10, 2021
Genetics and epidemiology of aniridia: Updated guidelines for genetic studyF Blanco-Kelly, M Tarilonte, M Villamar, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|June 27, 2009
Glypican 5 is an interferon-beta response gene: a replication studyM D C Cénit, F Blanco-Kelly, V de las Heras, et al.
Genes and Immunity|October 22, 2010
Members 6B and 14 of the TNF receptor superfamily in multiple sclerosis predispositionF Blanco-Kelly, R Alvarez-Lafuente, A Alcina, et al.
Human Genetics|October 7, 2018
Implication of non-coding PAX6 mutations in aniridiaJulie Plaisancié, M Tarilonte, P Ramos, et al.
Scientific Reports|November 10, 2022
Five years' experience of the clinical exome sequencing in a Spanish single centerA Arteche-López, A Ávila-Fernández, R Riveiro Álvarez, et al.
Scientific Reports|March 12, 2021
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomesA Arteche-López, A Ávila-Fernández, R Romero, et al.
Human Genetics|August 27, 2021
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseasesI Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Archivos De La Sociedad Espanola De Oftalmologia|April 20, 2013
Guidelines for genetic study of aniridiaF Blanco-Kelly, C Villaverde-Montero, I Lorda-Sánchez, et al.
Clinical Genetics|October 11, 2011
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosaI Hernan, M J Gamundi, E Borràs, et al.
Archivos De La Sociedad Espanola De Oftalmologia|November 27, 2021
Genetics and epidemiology of aniridia: Updated guidelines for genetic studyF Blanco-Kelly, M Tarilonte, M Villamar, et al.
Archivos De La Sociedad Espanola De Oftalmologia|July 10, 2021
Genetics and epidemiology of aniridia: Updated guidelines for genetic studyF Blanco-Kelly, M Tarilonte, M Villamar, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|June 27, 2009
Glypican 5 is an interferon-beta response gene: a replication studyM D C Cénit, F Blanco-Kelly, V de las Heras, et al.
Genes and Immunity|October 22, 2010
Members 6B and 14 of the TNF receptor superfamily in multiple sclerosis predispositionF Blanco-Kelly, R Alvarez-Lafuente, A Alcina, et al.
Human Genetics|October 7, 2018
Implication of non-coding PAX6 mutations in aniridiaJulie Plaisancié, M Tarilonte, P Ramos, et al.
Scientific Reports|November 10, 2022
Five years' experience of the clinical exome sequencing in a Spanish single centerA Arteche-López, A Ávila-Fernández, R Riveiro Álvarez, et al.
Scientific Reports|March 12, 2021
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomesA Arteche-López, A Ávila-Fernández, R Romero, et al.
Human Genetics|August 27, 2021
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseasesI Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, et al.
Pageof 1