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Sandro Banfi

Showing results (91-100 of 136) with videos related to

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Ophthalmology|March 12, 2013
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2Francesco Testa, Albert M Maguire, Settimio Rossi, et al.
HGG Advances|May 31, 2024
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patientsRoberta Zeuli, Marianthi Karali, Suzanne E de Bruijn, et al.
Investigative Ophthalmology & Visual Science|June 17, 2024
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene TherapyFrancesco Testa, Ester Carreño, L Ingeborgh van den Born, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
Ophthalmology|September 18, 2014
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, et al.
Nucleic Acids Research|June 5, 2014
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidanceIvan Conte, Stefania Merella, Jose Manuel Garcia-Manteiga, et al.
Nucleic Acids Research|February 9, 2013
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during developmentRemo Sanges, Yavor Hadzhiev, Marion Gueroult-Bellone, et al.
Journal of Neurology|March 3, 2005
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardationGiovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Plos Genetics|March 22, 2013
Pax6 regulates gene expression in the vertebrate lens through miR-204Ohad Shaham, Karen Gueta, Eyal Mor, et al.
Pageof 14

Showing results (91-100 of 136) with videos related to

Sort By:
Pageof 14
Ophthalmology|March 12, 2013
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2Francesco Testa, Albert M Maguire, Settimio Rossi, et al.
HGG Advances|May 31, 2024
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patientsRoberta Zeuli, Marianthi Karali, Suzanne E de Bruijn, et al.
Investigative Ophthalmology & Visual Science|June 17, 2024
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene TherapyFrancesco Testa, Ester Carreño, L Ingeborgh van den Born, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
Ophthalmology|September 18, 2014
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, et al.
Nucleic Acids Research|June 5, 2014
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidanceIvan Conte, Stefania Merella, Jose Manuel Garcia-Manteiga, et al.
Nucleic Acids Research|February 9, 2013
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during developmentRemo Sanges, Yavor Hadzhiev, Marion Gueroult-Bellone, et al.
Journal of Neurology|March 3, 2005
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardationGiovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Plos Genetics|March 22, 2013
Pax6 regulates gene expression in the vertebrate lens through miR-204Ohad Shaham, Karen Gueta, Eyal Mor, et al.
Pageof 14