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Genes
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January 30, 2021
A Novel Splice-Site Variant in <i>CACNA1F</i> Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
Usman Mahmood, Cécile Méjécase, Syed M A Ali, et al.
European Journal of Human Genetics : EJHG
|
January 19, 2017
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches
Rose Richardson, Jane Sowden, Christina Gerth-Kahlert, et al.
Therapeutic Advances in Ophthalmology
|
October 5, 2020
Practical guide to genetic screening for inherited eye diseases
Cécile Méjécase, Samantha Malka, Zeyu Guan, et al.
European Journal of Human Genetics : EJHG
|
July 7, 2016
Clinical utility gene card for: Aniridia
Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, et al.
The British Journal of Ophthalmology
|
October 3, 2022
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma
Philippa Harding, Sri Gore, Samantha Malka, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 25, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom
Daniel Jackson, Samantha Malka, Philippa Harding, et al.
The British Journal of Ophthalmology
|
August 28, 2017
Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK
Mariya Moosajee, Alessandro Abbouda, Barnaby Foot, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2020
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
Dulce Lima Cunha, Nicholas Owen, Vijay Tailor, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2016
Clinical utility gene card for: Wolfram syndrome
Mariya Moosajee, Patrick Yu-Wai-Man, Cécile Rouzier, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2025
Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency
David Zocche, Mariya Moosajee, Alpana M Kulkarni, et al.
Page
of 18
Search research articles
Search
Showing results (81-90 of 176) with videos related to
Sort By:
Page
of 18
Genes
|
January 30, 2021
A Novel Splice-Site Variant in <i>CACNA1F</i> Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
Usman Mahmood, Cécile Méjécase, Syed M A Ali, et al.
European Journal of Human Genetics : EJHG
|
January 19, 2017
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches
Rose Richardson, Jane Sowden, Christina Gerth-Kahlert, et al.
Therapeutic Advances in Ophthalmology
|
October 5, 2020
Practical guide to genetic screening for inherited eye diseases
Cécile Méjécase, Samantha Malka, Zeyu Guan, et al.
European Journal of Human Genetics : EJHG
|
July 7, 2016
Clinical utility gene card for: Aniridia
Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, et al.
The British Journal of Ophthalmology
|
October 3, 2022
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma
Philippa Harding, Sri Gore, Samantha Malka, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 25, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom
Daniel Jackson, Samantha Malka, Philippa Harding, et al.
The British Journal of Ophthalmology
|
August 28, 2017
Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK
Mariya Moosajee, Alessandro Abbouda, Barnaby Foot, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2020
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
Dulce Lima Cunha, Nicholas Owen, Vijay Tailor, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2016
Clinical utility gene card for: Wolfram syndrome
Mariya Moosajee, Patrick Yu-Wai-Man, Cécile Rouzier, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2025
Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency
David Zocche, Mariya Moosajee, Alpana M Kulkarni, et al.
Page
of 18