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James Bellingham

Showing results (31-40 of 36) with videos related to

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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.
NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, 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|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
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.
NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, 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|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
Pageof 4