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Showing results (81-90 of 85) with videos related to

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The Journal of Clinical Investigation|January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeSelket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.
The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.
American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, 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 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
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Showing results (81-90 of 85) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 85 results.
The Journal of Clinical Investigation|January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeSelket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.
The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.
American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, 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 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
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