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Delphine Blain

Showing results (21-30 of 35) with videos related to

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Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, et al.
Clinical Genetics|May 15, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPasesDiana Brightman, Nawaal Shinwari, Aleksey Porollo, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaBenjamin D Solomon, Daniel E Pineda-Alvarez, Joan Z Balog, et al.
Genes|May 28, 2022
Clinical Phenotypes of <i>CDHR1</i>-Associated Retinal DystrophiesVolha V Malechka, Catherine A Cukras, Emily Y Chew, et al.
Investigative Ophthalmology & Visual Science|September 11, 2023
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15Matthew D Benson, Souvick Mukherjee, Aime R Agather, et al.
Medrxiv : the Preprint Server for Health Sciences|December 11, 2023
The qMini assay identifies an overlooked class of splice variantsBin Guan, Chelsea Bender, Madhulatha Pantrangi, et al.
American Journal of Ophthalmology|September 10, 2013
Systemic diagnostic testing in patients with apparently isolated uveal colobomaNancy Huynh, Delphine Blain, Tanya Glaser, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|February 14, 2007
Molecular testing for hereditary retinal disease as part of clinical careKaty Downs, David N Zacks, Rafael Caruso, et al.
Ophthalmology Science|November 7, 2022
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal HypoplasiaVolha V Malechka, Dat Duong, Keyla D Bordonada, et al.
Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, et al.
Clinical Genetics|May 15, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPasesDiana Brightman, Nawaal Shinwari, Aleksey Porollo, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaBenjamin D Solomon, Daniel E Pineda-Alvarez, Joan Z Balog, et al.
Genes|May 28, 2022
Clinical Phenotypes of <i>CDHR1</i>-Associated Retinal DystrophiesVolha V Malechka, Catherine A Cukras, Emily Y Chew, et al.
Investigative Ophthalmology & Visual Science|September 11, 2023
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15Matthew D Benson, Souvick Mukherjee, Aime R Agather, et al.
Medrxiv : the Preprint Server for Health Sciences|December 11, 2023
The qMini assay identifies an overlooked class of splice variantsBin Guan, Chelsea Bender, Madhulatha Pantrangi, et al.
American Journal of Ophthalmology|September 10, 2013
Systemic diagnostic testing in patients with apparently isolated uveal colobomaNancy Huynh, Delphine Blain, Tanya Glaser, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|February 14, 2007
Molecular testing for hereditary retinal disease as part of clinical careKaty Downs, David N Zacks, Rafael Caruso, et al.
Ophthalmology Science|November 7, 2022
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal HypoplasiaVolha V Malechka, Dat Duong, Keyla D Bordonada, et al.
Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Pageof 4