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Showing results (431-440 of 438) with videos related to

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Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, 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.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, 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.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, 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 44

Showing results (431-440 of 438) with videos related to

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Pageof 44
You have reached the last page of results.This site can display upto 438 results.
Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, 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.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, 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.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, 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 44