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Isabelle Audo

Showing results (91-100 of 234) with videos related to

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Investigative Ophthalmology & Visual Science|March 17, 2021
Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night BlindnessJuliette Varin, Nassima Bouzidi, Miguel Miranda De Sousa Dias, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|February 16, 2011
Foveal damage in habitual poppers usersIsabelle Audo, Mohamed El Sanharawi, Catherine Vignal-Clermont, et al.
Investigative Ophthalmology & Visual Science|April 22, 2025
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural HistoryLorenzo Bianco, Alessio Antropoli, Amine Benadji, et al.
Ophthalmic Genetics|February 23, 2016
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, et al.
Scientific Reports|September 22, 2021
Characterization of SSBP1-related optic atrophy and foveopathyIsabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, et al.
Stem Cell Research|November 16, 2019
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brotherJuliette Wohlschlegel, Camille Letellier, Bingqian Liu, et al.
Molecular Vision|July 9, 2011
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese familyIsabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, et al.
Plos One|March 7, 2014
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)Marion Neuillé, Said El Shamieh, Elise Orhan, et al.
International Journal of Molecular Sciences|October 17, 2019
Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt DiseaseMarco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, et al.
Ophthalmology and Therapy|May 21, 2023
Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsROIsabelle Audo, Francesco Patalano, Christel Naujoks, et al.
Pageof 24

Showing results (91-100 of 234) with videos related to

Sort By:
Pageof 24
Investigative Ophthalmology & Visual Science|March 17, 2021
Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night BlindnessJuliette Varin, Nassima Bouzidi, Miguel Miranda De Sousa Dias, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|February 16, 2011
Foveal damage in habitual poppers usersIsabelle Audo, Mohamed El Sanharawi, Catherine Vignal-Clermont, et al.
Investigative Ophthalmology & Visual Science|April 22, 2025
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural HistoryLorenzo Bianco, Alessio Antropoli, Amine Benadji, et al.
Ophthalmic Genetics|February 23, 2016
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, et al.
Scientific Reports|September 22, 2021
Characterization of SSBP1-related optic atrophy and foveopathyIsabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, et al.
Stem Cell Research|November 16, 2019
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brotherJuliette Wohlschlegel, Camille Letellier, Bingqian Liu, et al.
Molecular Vision|July 9, 2011
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese familyIsabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, et al.
Plos One|March 7, 2014
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)Marion Neuillé, Said El Shamieh, Elise Orhan, et al.
International Journal of Molecular Sciences|October 17, 2019
Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt DiseaseMarco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, et al.
Ophthalmology and Therapy|May 21, 2023
Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsROIsabelle Audo, Francesco Patalano, Christel Naujoks, et al.
Pageof 24