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Ophthalmology
|
August 24, 2014
Personalized diagnosis and management of congenital cataract by next-generation sequencing
Rachel L Gillespie, James O'Sullivan, Jane Ashworth, et al.
Investigative Ophthalmology & Visual Science
|
January 10, 2015
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy
Rachel L Gillespie, Jill Urquhart, Simon C Lovell, et al.
Genes
|
April 28, 2023
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis
Mohammud Musleh, Adam Bull, Emma Linton, et al.
Neurogenetics
|
August 28, 2014
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
Panagiotis I Sergouniotis, Rahat Perveen, Dawn L Thiselton, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
Omamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)
|
August 8, 2025
Update on pediatric cataract surgery
I Christopher Lloyd, M Edward Wilson, Rupal H Trivedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Scientific Reports
|
November 14, 2019
Clinical and genetic variability in children with partial albinism
Patrick Campbell, Jamie M Ellingford, Neil R A Parry, et al.
Ophthalmology
|
March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, et al.
Nature Reviews. Nephrology
|
June 15, 2026
Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis
Katharina Hohenfellner, Elke Wühl, Dieter Haffner, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
Ophthalmology
|
August 24, 2014
Personalized diagnosis and management of congenital cataract by next-generation sequencing
Rachel L Gillespie, James O'Sullivan, Jane Ashworth, et al.
Investigative Ophthalmology & Visual Science
|
January 10, 2015
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy
Rachel L Gillespie, Jill Urquhart, Simon C Lovell, et al.
Genes
|
April 28, 2023
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis
Mohammud Musleh, Adam Bull, Emma Linton, et al.
Neurogenetics
|
August 28, 2014
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
Panagiotis I Sergouniotis, Rahat Perveen, Dawn L Thiselton, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
Omamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)
|
August 8, 2025
Update on pediatric cataract surgery
I Christopher Lloyd, M Edward Wilson, Rupal H Trivedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Scientific Reports
|
November 14, 2019
Clinical and genetic variability in children with partial albinism
Patrick Campbell, Jamie M Ellingford, Neil R A Parry, et al.
Ophthalmology
|
March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, et al.
Nature Reviews. Nephrology
|
June 15, 2026
Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis
Katharina Hohenfellner, Elke Wühl, Dieter Haffner, et al.
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of 5