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Andrew R Webster

Showing results (261-270 of 372) with videos related to

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Investigative Ophthalmology & Visual Science|March 13, 2009
Clinicopathological case series of four patients with inherited macular diseaseLouisa Wickham, Fred K Chen, Geoffrey P Lewis, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
The British Journal of Ophthalmology|April 14, 2019
Detailed clinical characterisation, unique features and natural history of autosomal recessive <i>RDH12</i>-associated retinal degenerationAbigail T Fahim, Zaina Bouzia, Kari H Branham, et al.
Lancet (London, England)|January 21, 2014
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trialRobert E MacLaren, Markus Groppe, Alun R Barnard, 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.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Scientific Reports|March 2, 2017
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugsConor M Ramsden, Britta Nommiste, Amelia R Lane, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosisElena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
The New England Journal of Medicine|April 28, 2016
Visual Acuity after Retinal Gene Therapy for ChoroideremiaThomas L Edwards, Jasleen K Jolly, Markus Groppe, et al.
Pageof 38

Showing results (261-270 of 372) with videos related to

Sort By:
Pageof 38
Investigative Ophthalmology & Visual Science|March 13, 2009
Clinicopathological case series of four patients with inherited macular diseaseLouisa Wickham, Fred K Chen, Geoffrey P Lewis, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
The British Journal of Ophthalmology|April 14, 2019
Detailed clinical characterisation, unique features and natural history of autosomal recessive <i>RDH12</i>-associated retinal degenerationAbigail T Fahim, Zaina Bouzia, Kari H Branham, et al.
Lancet (London, England)|January 21, 2014
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trialRobert E MacLaren, Markus Groppe, Alun R Barnard, 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.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Scientific Reports|March 2, 2017
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugsConor M Ramsden, Britta Nommiste, Amelia R Lane, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosisElena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
The New England Journal of Medicine|April 28, 2016
Visual Acuity after Retinal Gene Therapy for ChoroideremiaThomas L Edwards, Jasleen K Jolly, Markus Groppe, et al.
Pageof 38