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I Christopher Lloyd

Showing results (11-20 of 19) with videos related to

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Ophthalmology|August 3, 2015
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric CataractRachel 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 dysplasiaRachel L Taylor, Carla Sanjuro Soriano, Simon Williams, et al.
Neurogenetics|August 28, 2014
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathyPanagiotis 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 syndromeJamie 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 translocationRobyn 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 ForceArlene V Drack, Virginia Miraldi Utz, Kai Wang, et al.
Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)|August 8, 2025
Update on pediatric cataract surgeryI 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 diseaseJamie 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 organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 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 CataractRachel 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 dysplasiaRachel L Taylor, Carla Sanjuro Soriano, Simon Williams, et al.
Neurogenetics|August 28, 2014
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathyPanagiotis 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 syndromeJamie 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 translocationRobyn 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 ForceArlene V Drack, Virginia Miraldi Utz, Kai Wang, et al.
Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)|August 8, 2025
Update on pediatric cataract surgeryI 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 diseaseJamie 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 organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
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