Search research articles
Contact Us
Filters
Showing results (61-70 of 155) with videos related to
Page
of 16
Sort By:
Ophthalmic Genetics
|
October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriers
Adva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
BMC Medical Genetics
|
October 14, 2010
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, et al.
Investigative Ophthalmology & Visual Science
|
December 29, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
Valentina Di Iorio, Marianthi Karali, Paolo Melillo, et al.
Scientific Reports
|
February 5, 2021
Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, et al.
Investigative Ophthalmology & Visual Science
|
March 17, 2021
Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness
Juliette Varin, Nassima Bouzidi, Miguel Miranda De Sousa Dias, 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 brother
Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, et al.
Investigative Ophthalmology & Visual Science
|
April 22, 2025
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History
Lorenzo Bianco, Alessio Antropoli, Amine Benadji, 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 family
Isabelle 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
|
January 8, 2023
Mice Lacking <i>Gpr179</i> with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, et al.
Page
of 16
Search research articles
Search
Showing results (61-70 of 155) with videos related to
Sort By:
Page
of 16
Ophthalmic Genetics
|
October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriers
Adva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
BMC Medical Genetics
|
October 14, 2010
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, et al.
Investigative Ophthalmology & Visual Science
|
December 29, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
Valentina Di Iorio, Marianthi Karali, Paolo Melillo, et al.
Scientific Reports
|
February 5, 2021
Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, et al.
Investigative Ophthalmology & Visual Science
|
March 17, 2021
Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness
Juliette Varin, Nassima Bouzidi, Miguel Miranda De Sousa Dias, 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 brother
Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, et al.
Investigative Ophthalmology & Visual Science
|
April 22, 2025
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History
Lorenzo Bianco, Alessio Antropoli, Amine Benadji, 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 family
Isabelle 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
|
January 8, 2023
Mice Lacking <i>Gpr179</i> with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, et al.
Page
of 16