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Sandro Banfi

Showing results (61-70 of 136) with videos related to

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Molecular Therapy. Nucleic Acids|January 29, 2025
<i>In vitro</i> high-content screening reveals miR-429 as a protective molecule in photoreceptor degenerationGeorgios Petrogiannakis, Irene Guadagnino, Santiago Negueruela, et al.
Molecular Genetics and Metabolism|May 18, 2023
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease riskOrly Goldstein, Mali Gana-Weisz, Sandro Banfi, et al.
Diagnostics (Basel, Switzerland)|August 7, 2021
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating VariantsRaffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, et al.
International Journal of Molecular Sciences|December 28, 2019
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis PigmentosaMarianthi Karali, Francesco Testa, Raffaella Brunetti-Pierri, et al.
Translational Vision Science & Technology|September 23, 2021
Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric PatientsFrancesco Testa, Paolo Melillo, Michele Della Corte, et al.
Development (Cambridge, England)|December 15, 2010
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eyeGiovanna Alfano, Ivan Conte, Tiziana Caramico, et al.
Gene|October 18, 2002
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosaIvan Conte, Marta Lestingi, Anneke den Hollander, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophyFrancesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, et al.
Nature|December 6, 2002
Human chromosome 21 gene expression atlas in the mouseAlexandre Reymond, Valeria Marigo, Murat B Yaylaoglu, et al.
American Journal of Medical Genetics. Part A|December 27, 2023
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndromeAlessandro De Falco, Marianthi Karali, Chiara Criscuolo, et al.
Pageof 14

Showing results (61-70 of 136) with videos related to

Sort By:
Pageof 14
Molecular Therapy. Nucleic Acids|January 29, 2025
<i>In vitro</i> high-content screening reveals miR-429 as a protective molecule in photoreceptor degenerationGeorgios Petrogiannakis, Irene Guadagnino, Santiago Negueruela, et al.
Molecular Genetics and Metabolism|May 18, 2023
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease riskOrly Goldstein, Mali Gana-Weisz, Sandro Banfi, et al.
Diagnostics (Basel, Switzerland)|August 7, 2021
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating VariantsRaffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, et al.
International Journal of Molecular Sciences|December 28, 2019
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis PigmentosaMarianthi Karali, Francesco Testa, Raffaella Brunetti-Pierri, et al.
Translational Vision Science & Technology|September 23, 2021
Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric PatientsFrancesco Testa, Paolo Melillo, Michele Della Corte, et al.
Development (Cambridge, England)|December 15, 2010
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eyeGiovanna Alfano, Ivan Conte, Tiziana Caramico, et al.
Gene|October 18, 2002
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosaIvan Conte, Marta Lestingi, Anneke den Hollander, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophyFrancesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, et al.
Nature|December 6, 2002
Human chromosome 21 gene expression atlas in the mouseAlexandre Reymond, Valeria Marigo, Murat B Yaylaoglu, et al.
American Journal of Medical Genetics. Part A|December 27, 2023
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndromeAlessandro De Falco, Marianthi Karali, Chiara Criscuolo, et al.
Pageof 14