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European Journal of Medical Genetics
|
August 22, 2020
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
Monika K Grudzinska Pechhacker, Grace Yoon, Lili-Naz Hazrati, et al.
SLAS Discovery : Advancing Life Sciences R & D
|
September 27, 2019
Screening of Chemical Libraries Using a Yeast Model of Retinal Disease
Benjamin M Scott, Leanne E Wybenga-Groot, C Jane McGlade, et al.
Eye (London, England)
|
May 24, 2023
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
Brian G Ballios, Amarilla Mandola, Alaa Tayyib, et al.
HGG Advances
|
April 3, 2026
Broadening the phenotypic and molecular spectrum of PRS deficiency in females
Tamara Braid, Sydney Scholten, Sangeetha Yoganathan, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
July 25, 2022
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1
Eman Saleh, Monika Grudzinska Pechhacker, Anjali Vig, et al.
The British Journal of Ophthalmology
|
October 30, 2012
Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations
Daniel Benson Rootman, Efren Gonzalez, Ashwin Mallipatna, et al.
Journal of Molecular Evolution
|
February 7, 2024
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin
Benjamin M Scott, Steven K Chen, Alexander Van Nynatten, et al.
Investigative Ophthalmology & Visual Science
|
June 30, 2017
Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells
Jason Charng, Samuel G Jacobson, Elise Heon, et al.
Genetics
|
December 6, 2018
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease
Benjamin M Scott, Steven K Chen, Nihar Bhattacharyya, et al.
Investigative Ophthalmology & Visual Science
|
June 10, 2008
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations
Samuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 87) with videos related to
Sort By:
Page
of 9
European Journal of Medical Genetics
|
August 22, 2020
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
Monika K Grudzinska Pechhacker, Grace Yoon, Lili-Naz Hazrati, et al.
SLAS Discovery : Advancing Life Sciences R & D
|
September 27, 2019
Screening of Chemical Libraries Using a Yeast Model of Retinal Disease
Benjamin M Scott, Leanne E Wybenga-Groot, C Jane McGlade, et al.
Eye (London, England)
|
May 24, 2023
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
Brian G Ballios, Amarilla Mandola, Alaa Tayyib, et al.
HGG Advances
|
April 3, 2026
Broadening the phenotypic and molecular spectrum of PRS deficiency in females
Tamara Braid, Sydney Scholten, Sangeetha Yoganathan, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
July 25, 2022
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1
Eman Saleh, Monika Grudzinska Pechhacker, Anjali Vig, et al.
The British Journal of Ophthalmology
|
October 30, 2012
Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations
Daniel Benson Rootman, Efren Gonzalez, Ashwin Mallipatna, et al.
Journal of Molecular Evolution
|
February 7, 2024
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin
Benjamin M Scott, Steven K Chen, Alexander Van Nynatten, et al.
Investigative Ophthalmology & Visual Science
|
June 30, 2017
Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells
Jason Charng, Samuel G Jacobson, Elise Heon, et al.
Genetics
|
December 6, 2018
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease
Benjamin M Scott, Steven K Chen, Nihar Bhattacharyya, et al.
Investigative Ophthalmology & Visual Science
|
June 10, 2008
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations
Samuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Page
of 9