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Xavier Zanlonghi

Showing results (1-10 of 58) with videos related to

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La Revue Du Praticien|August 15, 2006
[Visual acuity and work and leisure abilities]Xavier Zanlonghi, Céline Faveeuw, Tanguy Bizeau, et al.
JAMA Ophthalmology|August 10, 2013
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1Elodie Dessalces, Béatrice Bocquet, Jérôme Bourien, et al.
Ophthalmic Genetics|March 29, 2022
Natural history of Usher type 2 with the c.2299delG mutation of <i>USH2A</i> in a large cohortAudrey Meunier, Xavier Zanlonghi, Anne-Françoise Roux, et al.
Ophthalmic Genetics|July 3, 2024
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in <i>BEST1</i>Adam Mainguy, Claire Marie Dhaenens, Anais Poncet, et al.
Retina (Philadelphia, Pa.)|December 14, 2020
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHYIsabelle Meunier, Béatrice Bocquet, Majida Charif, et al.
Investigative Ophthalmology & Visual Science|September 2, 2025
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function CorrelationJoan Bitan, Anaïs F Poncet, Claire Lecigne, et al.
American Journal of Ophthalmology|April 11, 2008
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogramSafouane Ben Salah, Satomi Kamei, Audrey Sénéćhal, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmusJamal Ghoumid, Joris Andrieux, Bernard Sablonnière, et al.
American Journal of Medical Genetics. Part A|January 9, 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variationKevin Uguen, Sylvia Redon, Karen Rouault, et al.
Investigative Ophthalmology & Visual Science|April 2, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated RetinopathyAlessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, et al.
Pageof 6

Showing results (1-10 of 58) with videos related to

Sort By:
Pageof 6
La Revue Du Praticien|August 15, 2006
[Visual acuity and work and leisure abilities]Xavier Zanlonghi, Céline Faveeuw, Tanguy Bizeau, et al.
JAMA Ophthalmology|August 10, 2013
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1Elodie Dessalces, Béatrice Bocquet, Jérôme Bourien, et al.
Ophthalmic Genetics|March 29, 2022
Natural history of Usher type 2 with the c.2299delG mutation of <i>USH2A</i> in a large cohortAudrey Meunier, Xavier Zanlonghi, Anne-Françoise Roux, et al.
Ophthalmic Genetics|July 3, 2024
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in <i>BEST1</i>Adam Mainguy, Claire Marie Dhaenens, Anais Poncet, et al.
Retina (Philadelphia, Pa.)|December 14, 2020
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHYIsabelle Meunier, Béatrice Bocquet, Majida Charif, et al.
Investigative Ophthalmology & Visual Science|September 2, 2025
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function CorrelationJoan Bitan, Anaïs F Poncet, Claire Lecigne, et al.
American Journal of Ophthalmology|April 11, 2008
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogramSafouane Ben Salah, Satomi Kamei, Audrey Sénéćhal, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmusJamal Ghoumid, Joris Andrieux, Bernard Sablonnière, et al.
American Journal of Medical Genetics. Part A|January 9, 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variationKevin Uguen, Sylvia Redon, Karen Rouault, et al.
Investigative Ophthalmology & Visual Science|April 2, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated RetinopathyAlessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, et al.
Pageof 6