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Ophthalmic genetics

Showing results (11-20 of 2,050) with videos related to

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Ophthalmic Genetics|March 31, 2011
Intra-arterial and oral digoxin therapy for retinoblastomaMrinali Patel, Yannis M Paulus, Y Pierre Gobin, et al.
Ophthalmic Genetics|March 24, 2011
A unique presentation of grouped congenital hypertrophy of the retinal pigment epitheliumMary E Turell, Nicholas J Leonardy, Arun D Singh
Ophthalmic Genetics|May 29, 2019
Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in <i>PNPLA6</i> mimicking choroideremiaErin O'Neil, Leona Serrano, Drew Scoles, et al.
Ophthalmic Genetics|May 8, 2019
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2Rola Ba-Abbad, Anthony G Robson, Becky MacPhee, et al.
Ophthalmic Genetics|May 8, 2019
Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindnessAurore Tourville, Christelle Michiels, Christel Condroyer, et al.
Ophthalmic Genetics|May 20, 1998
A practice-based survey of familial age-related maculopathyM R Keverline, T S Mah, P O Keverline, et al.
Ophthalmic Genetics|July 21, 2016
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucomaNajah O Al-Shahrani, Arif O Khan
Ophthalmic Genetics|August 4, 2016
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndromeJudy Savige, Yanyan Wang, Andrew Crawford, et al.
Ophthalmic Genetics|April 5, 2021
Oliver McFarlane syndrome: two new cases and a review of the literatureKristian Lisbjerg, Mette K G Andersen, Mette Bertelsen, et al.
Ophthalmic Genetics|May 9, 2023
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <i>TP63</i> and <i>CNGB3</i>Syrine Hizem, Rym Maamouri, Anissa Zaouak, et al.
Pageof 205

Showing results (11-20 of 2,050) with videos related to

Sort By:
Pageof 205
Ophthalmic Genetics|March 31, 2011
Intra-arterial and oral digoxin therapy for retinoblastomaMrinali Patel, Yannis M Paulus, Y Pierre Gobin, et al.
Ophthalmic Genetics|March 24, 2011
A unique presentation of grouped congenital hypertrophy of the retinal pigment epitheliumMary E Turell, Nicholas J Leonardy, Arun D Singh
Ophthalmic Genetics|May 29, 2019
Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in <i>PNPLA6</i> mimicking choroideremiaErin O'Neil, Leona Serrano, Drew Scoles, et al.
Ophthalmic Genetics|May 8, 2019
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2Rola Ba-Abbad, Anthony G Robson, Becky MacPhee, et al.
Ophthalmic Genetics|May 8, 2019
Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindnessAurore Tourville, Christelle Michiels, Christel Condroyer, et al.
Ophthalmic Genetics|May 20, 1998
A practice-based survey of familial age-related maculopathyM R Keverline, T S Mah, P O Keverline, et al.
Ophthalmic Genetics|July 21, 2016
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucomaNajah O Al-Shahrani, Arif O Khan
Ophthalmic Genetics|August 4, 2016
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndromeJudy Savige, Yanyan Wang, Andrew Crawford, et al.
Ophthalmic Genetics|April 5, 2021
Oliver McFarlane syndrome: two new cases and a review of the literatureKristian Lisbjerg, Mette K G Andersen, Mette Bertelsen, et al.
Ophthalmic Genetics|May 9, 2023
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <i>TP63</i> and <i>CNGB3</i>Syrine Hizem, Rym Maamouri, Anissa Zaouak, et al.
Pageof 205