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Ophthalmic genetics

Showing results (71-80 of 2,051) with videos related to

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Ophthalmic Genetics|January 18, 2022
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variantAlan Baltazar Treviño-Herrera, Ana Patricia Bustamante-Vargas, Andrés Lisker-Cervantes, et al.
Ophthalmic Genetics|November 30, 2021
Novel <i>CHRDL1</i> mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier femalesRocio Arce-Gonzalez, Oscar F Chacon-Camacho, Alejandro Navas-Perez, et al.
Ophthalmic Genetics|December 15, 2021
PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel MutationHanna Choi, Alan Cloutier, David Lally
Ophthalmic Genetics|December 13, 2021
A novel variant in <i>TGFBI</i> causes keratoconus in a two-generation Chinese familyQinghong Lin, Lin Zheng, Zhengwei Shen
Ophthalmic Genetics|December 13, 2021
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndromeMeghana Kalavar, Jose J Echegaray, Noy Ashkenazy, et al.
Ophthalmic Genetics|December 13, 2021
Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathyNikolaos Gouliopoulos, Gerasimos Siasos, Nikolaos Bouratzis, et al.
Ophthalmic Genetics|January 12, 2022
Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotypeZheyuan Zong, Shirin Kalyan, Cameron Andres, et al.
Ophthalmic Genetics|December 6, 2021
<i>TULP1</i> related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two casesH Al-Hindi, M Z Chauhan, R Sanders, et al.
Ophthalmic Genetics|November 4, 2022
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegenerationEva Wai Nam Wong, Shirley S W Cheng, Tiffany T Y Woo, et al.
Ophthalmic Genetics|November 1, 2022
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinismKarthikeyan Arcot Sadagopan, Chih-Hao Teng, Gong Hui, et al.
Pageof 206

Showing results (71-80 of 2,051) with videos related to

Sort By:
Pageof 206
Ophthalmic Genetics|January 18, 2022
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variantAlan Baltazar Treviño-Herrera, Ana Patricia Bustamante-Vargas, Andrés Lisker-Cervantes, et al.
Ophthalmic Genetics|November 30, 2021
Novel <i>CHRDL1</i> mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier femalesRocio Arce-Gonzalez, Oscar F Chacon-Camacho, Alejandro Navas-Perez, et al.
Ophthalmic Genetics|December 15, 2021
PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel MutationHanna Choi, Alan Cloutier, David Lally
Ophthalmic Genetics|December 13, 2021
A novel variant in <i>TGFBI</i> causes keratoconus in a two-generation Chinese familyQinghong Lin, Lin Zheng, Zhengwei Shen
Ophthalmic Genetics|December 13, 2021
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndromeMeghana Kalavar, Jose J Echegaray, Noy Ashkenazy, et al.
Ophthalmic Genetics|December 13, 2021
Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathyNikolaos Gouliopoulos, Gerasimos Siasos, Nikolaos Bouratzis, et al.
Ophthalmic Genetics|January 12, 2022
Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotypeZheyuan Zong, Shirin Kalyan, Cameron Andres, et al.
Ophthalmic Genetics|December 6, 2021
<i>TULP1</i> related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two casesH Al-Hindi, M Z Chauhan, R Sanders, et al.
Ophthalmic Genetics|November 4, 2022
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegenerationEva Wai Nam Wong, Shirley S W Cheng, Tiffany T Y Woo, et al.
Ophthalmic Genetics|November 1, 2022
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinismKarthikeyan Arcot Sadagopan, Chih-Hao Teng, Gong Hui, et al.
Pageof 206