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Francesco Testa

Showing results (111-120 of 126) with videos related to

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Molecular Therapy : the Journal of the American Society of Gene Therapy|December 3, 2009
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administrationFrancesca Simonelli, Albert M Maguire, Francesco Testa, et al.
Plos Genetics|February 15, 2018
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathyLeonardo Caporali, Luisa Iommarini, Chiara La Morgia, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
Investigative Ophthalmology & Visual Science|February 7, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History StudyFrancesco Testa, Vittoria Murro, Sabrina Signorini, et al.
European Journal of Human Genetics : EJHG|December 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing lossMarianthi Karali, Gema García-García, Karolina Kaminska, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
European Journal of Human Genetics : EJHG|April 26, 2002
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East EuropeAlessandra Maugeri, Kris Flothmann, Nadine Hemmrich, et al.
Pageof 13

Showing results (111-120 of 126) with videos related to

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Pageof 13
Molecular Therapy : the Journal of the American Society of Gene Therapy|December 3, 2009
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administrationFrancesca Simonelli, Albert M Maguire, Francesco Testa, et al.
Plos Genetics|February 15, 2018
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathyLeonardo Caporali, Luisa Iommarini, Chiara La Morgia, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
Investigative Ophthalmology & Visual Science|February 7, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History StudyFrancesco Testa, Vittoria Murro, Sabrina Signorini, et al.
European Journal of Human Genetics : EJHG|December 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing lossMarianthi Karali, Gema García-García, Karolina Kaminska, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
European Journal of Human Genetics : EJHG|April 26, 2002
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East EuropeAlessandra Maugeri, Kris Flothmann, Nadine Hemmrich, et al.
Pageof 13