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Orphanet Journal of Rare Diseases
|
April 3, 2026
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease
Thuy Tien Nguyen, Andrea Munoz, Kisha Jenkins, et al.
JCI Insight
|
January 25, 2022
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
Maximilian Pfau, Catherine A Cukras, Laryssa A Huryn, et al.
Investigative Ophthalmology & Visual Science
|
October 23, 2018
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
Ighovie F Onojafe, Lucyanne H Megan, Madeline G Melch, et al.
Plos One
|
March 16, 2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, et al.
Science Translational Medicine
|
November 2, 2018
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7
Chenchen Niu, Thazah P Prakash, Aneeza Kim, et al.
Frontiers in Aging Neuroscience
|
March 26, 2021
Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Joanne Li, Tao Liu, Oliver J Flynn, et al.
Pharmacology & Therapeutics
|
June 29, 2023
Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy
Mitra Farnoodian, Devika Bose, Francesca Barone, et al.
Human Mutation
|
March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
Dimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
American Journal of Ophthalmology
|
September 10, 2013
Systemic diagnostic testing in patients with apparently isolated uveal coloboma
Nancy Huynh, Delphine Blain, Tanya Glaser, et al.
Nature Communications
|
June 21, 2020
Nolz1 expression is required in dopaminergic axon guidance and striatal innervation
Clement Soleilhavoup, Marco Travaglio, Kieran Patrick, et al.
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of 16
Search research articles
Search
Showing results (101-110 of 158) with videos related to
Sort By:
Page
of 16
Orphanet Journal of Rare Diseases
|
April 3, 2026
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease
Thuy Tien Nguyen, Andrea Munoz, Kisha Jenkins, et al.
JCI Insight
|
January 25, 2022
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
Maximilian Pfau, Catherine A Cukras, Laryssa A Huryn, et al.
Investigative Ophthalmology & Visual Science
|
October 23, 2018
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
Ighovie F Onojafe, Lucyanne H Megan, Madeline G Melch, et al.
Plos One
|
March 16, 2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, et al.
Science Translational Medicine
|
November 2, 2018
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7
Chenchen Niu, Thazah P Prakash, Aneeza Kim, et al.
Frontiers in Aging Neuroscience
|
March 26, 2021
Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Joanne Li, Tao Liu, Oliver J Flynn, et al.
Pharmacology & Therapeutics
|
June 29, 2023
Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy
Mitra Farnoodian, Devika Bose, Francesca Barone, et al.
Human Mutation
|
March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
Dimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
American Journal of Ophthalmology
|
September 10, 2013
Systemic diagnostic testing in patients with apparently isolated uveal coloboma
Nancy Huynh, Delphine Blain, Tanya Glaser, et al.
Nature Communications
|
June 21, 2020
Nolz1 expression is required in dopaminergic axon guidance and striatal innervation
Clement Soleilhavoup, Marco Travaglio, Kieran Patrick, et al.
Page
of 16