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Showing results (311-320 of 322) with videos related to

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American Journal of Ophthalmology|May 12, 2023
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated AchromatopsiaMichel Michaelides, Nashila Hirji, Sui Chien Wong, et al.
Investigative Ophthalmology & Visual Science|June 30, 2004
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada, Wai-Man Chan, Caroline Andrews, et al.
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Science (New York, N.Y.)|April 24, 2004
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna C Jen, Wai-Man Chan, Thomas M Bosley, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal developmentCallum Hunt, Manjiri Patil, Hammad Syed, et al.
Nature Genetics|October 3, 2006
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmusPatrick Tarpey, Shery Thomas, Nagini Sarvananthan, et al.
Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Pageof 33

Showing results (311-320 of 322) with videos related to

Sort By:
Pageof 33
American Journal of Ophthalmology|May 12, 2023
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated AchromatopsiaMichel Michaelides, Nashila Hirji, Sui Chien Wong, et al.
Investigative Ophthalmology & Visual Science|June 30, 2004
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada, Wai-Man Chan, Caroline Andrews, et al.
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Science (New York, N.Y.)|April 24, 2004
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna C Jen, Wai-Man Chan, Thomas M Bosley, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal developmentCallum Hunt, Manjiri Patil, Hammad Syed, et al.
Nature Genetics|October 3, 2006
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmusPatrick Tarpey, Shery Thomas, Nagini Sarvananthan, et al.
Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Pageof 33