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Francesco Testa

Showing results (81-90 of 126) with videos related to

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Head & Face Medicine|July 8, 2022
Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case reportAngela Pia Cazzolla, Nunzio Francesco Testa, Francesca Spirito, 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.
Investigative Ophthalmology & Visual Science|December 29, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR MutationsValentina Di Iorio, Marianthi Karali, Paolo Melillo, 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.
Human Mutation|September 10, 2011
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferaseGabriella Esposito, Francesca De Falco, Nadia Tinto, 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.
International Journal of Molecular Sciences|October 13, 2021
Characteristics of Retinitis Pigmentosa Associated with <i>ADGRV1</i> and Comparison with <i>USH2A</i> in Patients from a Multicentric Usher Syndrome Study TreatrushAna Fakin, Crystel Bonnet, Anne Kurtenbach, 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.
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 13

Showing results (81-90 of 126) with videos related to

Sort By:
Pageof 13
Head & Face Medicine|July 8, 2022
Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case reportAngela Pia Cazzolla, Nunzio Francesco Testa, Francesca Spirito, 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.
Investigative Ophthalmology & Visual Science|December 29, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR MutationsValentina Di Iorio, Marianthi Karali, Paolo Melillo, 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.
Human Mutation|September 10, 2011
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferaseGabriella Esposito, Francesca De Falco, Nadia Tinto, 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.
International Journal of Molecular Sciences|October 13, 2021
Characteristics of Retinitis Pigmentosa Associated with <i>ADGRV1</i> and Comparison with <i>USH2A</i> in Patients from a Multicentric Usher Syndrome Study TreatrushAna Fakin, Crystel Bonnet, Anne Kurtenbach, 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.
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 13