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Jenina Capasso

Showing results (11-20 of 21) with videos related to

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Ophthalmic Genetics|April 21, 2018
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutationsNutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, et al.
Ophthalmology|August 27, 2013
Ocular manifestations of 22q11.2 microduplicationJose A Cordovez, Jenina Capasso, Michelle D Lingao, et al.
Molecular Vision|January 15, 2024
Protein modeling and in silico analysis to assess pathogenicity of <i>ABCA4</i> variants in patients with inherited retinal diseaseSenem Cevik, Nutsuchar Wangtiraumnuay, Kristof Van Schelvergem, et al.
Cornea|September 15, 2023
Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea SyndromeBonnie A Sklar, Phattrawan Pisuchpen, Mor Bareket, et al.
Ophthalmic Surgery, Lasers & Imaging Retina|August 16, 2019
Optical Coherence Tomography in Knobloch SyndromeAvrey Thau, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, et al.
Ophthalmic Genetics|February 20, 2016
Macular cystoid spaces in patients with retinal dystrophyMichelle D Lingao, Anuradha Ganesh, Arcot S Karthikeyan, et al.
Human Molecular Genetics|May 28, 2021
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disordersLinda M Reis, Elena A Sorokina, Lubica Dudakova, et al.
American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Human Mutation|April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and updateMarco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Ophthalmic Genetics|April 21, 2018
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutationsNutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, et al.
Ophthalmology|August 27, 2013
Ocular manifestations of 22q11.2 microduplicationJose A Cordovez, Jenina Capasso, Michelle D Lingao, et al.
Molecular Vision|January 15, 2024
Protein modeling and in silico analysis to assess pathogenicity of <i>ABCA4</i> variants in patients with inherited retinal diseaseSenem Cevik, Nutsuchar Wangtiraumnuay, Kristof Van Schelvergem, et al.
Cornea|September 15, 2023
Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea SyndromeBonnie A Sklar, Phattrawan Pisuchpen, Mor Bareket, et al.
Ophthalmic Surgery, Lasers & Imaging Retina|August 16, 2019
Optical Coherence Tomography in Knobloch SyndromeAvrey Thau, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, et al.
Ophthalmic Genetics|February 20, 2016
Macular cystoid spaces in patients with retinal dystrophyMichelle D Lingao, Anuradha Ganesh, Arcot S Karthikeyan, et al.
Human Molecular Genetics|May 28, 2021
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disordersLinda M Reis, Elena A Sorokina, Lubica Dudakova, et al.
American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Human Mutation|April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and updateMarco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
Pageof 3