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Investigative Ophthalmology & Visual Science
|
September 2, 2016
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4
Ana Fakin, Anthony G Robson, Kaoru Fujinami, et al.
Investigative Ophthalmology & Visual Science
|
November 8, 2016
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients
Ana Fakin, Anthony G Robson, John Pei-Wen Chiang, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
March 10, 2023
Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant
Sanja Petrović Pajić, Maja Suštar Habjan, Jelka Brecelj, 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 Treatrush
Ana Fakin, Crystel Bonnet, Anne Kurtenbach, et al.
Plos One
|
March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease
Stanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Progress in Retinal and Eye Research
|
August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
Samantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Clinical Genetics
|
May 2, 2026
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Marija Volk, Aleš Maver, Martina Jarc Vidmar, et al.
International Journal of Molecular Sciences
|
January 27, 2021
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel <i>GSN</i> Variant p.Glu580Lys
Maja Potrč, Marija Volk, Matteo de Rosa, et al.
Computational and Structural Biotechnology Journal
|
December 23, 2021
A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation
Michela Bollati, Luisa Diomede, Toni Giorgino, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
July 4, 2019
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
Katarina Stingl, Anne Kurtenbach, Gesa Hahn, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 48) with videos related to
Sort By:
Page
of 5
Investigative Ophthalmology & Visual Science
|
September 2, 2016
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4
Ana Fakin, Anthony G Robson, Kaoru Fujinami, et al.
Investigative Ophthalmology & Visual Science
|
November 8, 2016
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients
Ana Fakin, Anthony G Robson, John Pei-Wen Chiang, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
March 10, 2023
Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant
Sanja Petrović Pajić, Maja Suštar Habjan, Jelka Brecelj, 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 Treatrush
Ana Fakin, Crystel Bonnet, Anne Kurtenbach, et al.
Plos One
|
March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease
Stanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Progress in Retinal and Eye Research
|
August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
Samantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Clinical Genetics
|
May 2, 2026
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Marija Volk, Aleš Maver, Martina Jarc Vidmar, et al.
International Journal of Molecular Sciences
|
January 27, 2021
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel <i>GSN</i> Variant p.Glu580Lys
Maja Potrč, Marija Volk, Matteo de Rosa, et al.
Computational and Structural Biotechnology Journal
|
December 23, 2021
A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation
Michela Bollati, Luisa Diomede, Toni Giorgino, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
July 4, 2019
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
Katarina Stingl, Anne Kurtenbach, Gesa Hahn, et al.
Page
of 5