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Anthony G Robson

Showing results (151-160 of 188) with videos related to

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American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|August 10, 2011
Childhood-onset autosomal recessive bestrophinopathyArundhati Dev Borman, Alice E Davidson, James O'Sullivan, et al.
American Journal of Ophthalmology|October 8, 2023
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep PhenotypingMichalis Georgiou, Kaoru Fujinami, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science|June 15, 2022
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal DiseasesKatie M Williams, Michalis Georgiou, Angelos Kalitzeos, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
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.
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.
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.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
Pageof 19

Showing results (151-160 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|August 10, 2011
Childhood-onset autosomal recessive bestrophinopathyArundhati Dev Borman, Alice E Davidson, James O'Sullivan, et al.
American Journal of Ophthalmology|October 8, 2023
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep PhenotypingMichalis Georgiou, Kaoru Fujinami, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science|June 15, 2022
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal DiseasesKatie M Williams, Michalis Georgiou, Angelos Kalitzeos, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
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.
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.
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.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
Pageof 19