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Martin McKibbin

Showing results (101-110 of 106) with videos related to

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Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, 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.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 11

Showing results (101-110 of 106) with videos related to

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Pageof 11
You have reached the last page of results.This site can display upto 106 results.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, 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.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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