Search research articles
Contact Us
Filters
Showing results (11-20 of 21) with videos related to
Page
of 3
Sort By:
Ophthalmic Genetics
|
April 21, 2018
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, et al.
Ophthalmology
|
August 27, 2013
Ocular manifestations of 22q11.2 microduplication
Jose 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 disease
Senem 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 Syndrome
Bonnie A Sklar, Phattrawan Pisuchpen, Mor Bareket, et al.
Ophthalmic Surgery, Lasers & Imaging Retina
|
August 16, 2019
Optical Coherence Tomography in Knobloch Syndrome
Avrey Thau, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, et al.
Ophthalmic Genetics
|
February 20, 2016
Macular cystoid spaces in patients with retinal dystrophy
Michelle 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 disorders
Linda 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 syndrome
Laura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
Journal of Medical Genetics
|
July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eye
Linda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Human Mutation
|
April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and update
Marco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Ophthalmic Genetics
|
April 21, 2018
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, et al.
Ophthalmology
|
August 27, 2013
Ocular manifestations of 22q11.2 microduplication
Jose 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 disease
Senem 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 Syndrome
Bonnie A Sklar, Phattrawan Pisuchpen, Mor Bareket, et al.
Ophthalmic Surgery, Lasers & Imaging Retina
|
August 16, 2019
Optical Coherence Tomography in Knobloch Syndrome
Avrey Thau, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, et al.
Ophthalmic Genetics
|
February 20, 2016
Macular cystoid spaces in patients with retinal dystrophy
Michelle 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 disorders
Linda 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 syndrome
Laura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
Journal of Medical Genetics
|
July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eye
Linda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Human Mutation
|
April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and update
Marco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
Page
of 3