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Keren Carss

Showing results (1-10 of 27) with videos related to

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Genes, Chromosomes & Cancer|April 8, 2022
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomesXiao Jiang, Amanda O'Neill, Katherine R Smith, et al.
Ophthalmic Genetics|November 29, 2016
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eyeKamron N Khan, Keren Carss, F Lucy Raymond, et al.
Ophthalmology|November 13, 2015
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in HumansRola Ba-Abbad, Gavin Arno, Keren Carss, et al.
JAMA Ophthalmology|January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis PigmentosaSarah Hull, Marcella Attanasio, Gavin Arno, et al.
American Journal of Human Genetics|February 22, 2023
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK BiobankAbhishek Nag, Ryan S Dhindsa, Lawrence Middleton, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
Nature|August 10, 2021
Rare variant contribution to human disease in 281,104 UK Biobank exomesQuanli Wang, Ryan S Dhindsa, Keren Carss, et al.
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Genes, Chromosomes & Cancer|April 8, 2022
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomesXiao Jiang, Amanda O'Neill, Katherine R Smith, et al.
Ophthalmic Genetics|November 29, 2016
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eyeKamron N Khan, Keren Carss, F Lucy Raymond, et al.
Ophthalmology|November 13, 2015
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in HumansRola Ba-Abbad, Gavin Arno, Keren Carss, et al.
JAMA Ophthalmology|January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis PigmentosaSarah Hull, Marcella Attanasio, Gavin Arno, et al.
American Journal of Human Genetics|February 22, 2023
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK BiobankAbhishek Nag, Ryan S Dhindsa, Lawrence Middleton, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
Nature|August 10, 2021
Rare variant contribution to human disease in 281,104 UK Biobank exomesQuanli Wang, Ryan S Dhindsa, Keren Carss, et al.
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.
Pageof 3