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Ophthalmology
|
August 3, 2015
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
Rachel L Gillespie, Jill Urquhart, Beverley Anderson, et al.
Orphanet Journal of Rare Diseases
|
March 5, 2022
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Rachel L Taylor, Carla Sanjuro Soriano, Simon Williams, 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.
Lancet (London, England)
|
May 20, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
Jamie M Ellingford, Panagiotis I Sergouniotis, Rachel Lennon, et al.
Human Mutation
|
May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation
Robyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 25, 2019
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
Arlene V Drack, Virginia Miraldi Utz, Kai Wang, 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.
Journal of Medical Genetics
|
May 22, 2016
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Human Molecular Genetics
|
August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization
Rebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Ophthalmology
|
August 3, 2015
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
Rachel L Gillespie, Jill Urquhart, Beverley Anderson, et al.
Orphanet Journal of Rare Diseases
|
March 5, 2022
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Rachel L Taylor, Carla Sanjuro Soriano, Simon Williams, 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.
Lancet (London, England)
|
May 20, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
Jamie M Ellingford, Panagiotis I Sergouniotis, Rachel Lennon, et al.
Human Mutation
|
May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation
Robyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 25, 2019
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
Arlene V Drack, Virginia Miraldi Utz, Kai Wang, 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.
Journal of Medical Genetics
|
May 22, 2016
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Human Molecular Genetics
|
August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization
Rebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
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of 2