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Michael E Cheetham

Showing results (141-150 of 161) with videos related to

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Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
American Journal of Medical Genetics. Part A|June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutationJames Fasham, Gavin Arno, Siying Lin, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Translational Vision Science & Technology|September 17, 2025
Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt DiseaseAlexis Ceecee Britten-Jones, Saoud Al-Khuzaei, Matteo Rizzi, et al.
American Journal of Human Genetics|January 11, 2016
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Alice E Davidson, Petra Liskova, Cerys J Evans, et al.
American Journal of Human Genetics|January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentTom R Webb, Mar Matarin, Jessica C Gardner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
Pageof 17

Showing results (141-150 of 161) with videos related to

Sort By:
Pageof 17
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
American Journal of Medical Genetics. Part A|June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutationJames Fasham, Gavin Arno, Siying Lin, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Translational Vision Science & Technology|September 17, 2025
Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt DiseaseAlexis Ceecee Britten-Jones, Saoud Al-Khuzaei, Matteo Rizzi, et al.
American Journal of Human Genetics|January 11, 2016
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Alice E Davidson, Petra Liskova, Cerys J Evans, et al.
American Journal of Human Genetics|January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentTom R Webb, Mar Matarin, Jessica C Gardner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
Pageof 17