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Sandro Banfi

Showing results (121-130 of 136) with videos related to

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Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
The New England Journal of Medicine|April 29, 2008
Safety and efficacy of gene transfer for Leber's congenital amaurosisAlbert M Maguire, Francesca Simonelli, Eric A Pierce, et al.
Plos One|January 12, 2013
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotypeIsabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, et al.
Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.
Lancet (London, England)|October 27, 2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialAlbert M Maguire, Katherine A High, Alberto Auricchio, et al.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Pageof 14

Showing results (121-130 of 136) with videos related to

Sort By:
Pageof 14
Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
The New England Journal of Medicine|April 29, 2008
Safety and efficacy of gene transfer for Leber's congenital amaurosisAlbert M Maguire, Francesca Simonelli, Eric A Pierce, et al.
Plos One|January 12, 2013
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotypeIsabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, et al.
Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.
Lancet (London, England)|October 27, 2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialAlbert M Maguire, Katherine A High, Alberto Auricchio, et al.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Pageof 14