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Delphine Blain

Showing results (11-20 of 35) with videos related to

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Archives of Ophthalmology (Chicago, Ill. : 1960)|March 12, 2008
Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE)Brian P Brooks, Ian M Macdonald, Santa J Tumminia, et al.
Human Mutation|June 13, 2020
Genotype-phenotype associations in a large PRPH2-related retinopathy cohortMelissa J Reeves, Kerry E Goetz, Bin Guan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 7, 2020
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE networkKerry E Goetz, Melissa J Reeves, Shaina Gagadam, et al.
JAMA Ophthalmology|June 9, 2022
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal PeptideBin Guan, Laryssa A Huryn, Andrew B Hughes, et al.
American Journal of Ophthalmology|November 17, 2025
The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and GeneticsBrian P Brooks, Alexandra T Hehn, Delphine Blain, et al.
Investigative Ophthalmology & Visual Science|August 17, 2013
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosaLori S Sullivan, Sara J Bowne, Melissa J Reeves, et al.
Human Mutation|December 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaVijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, et al.
Retina (Philadelphia, Pa.)|March 13, 2024
OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related RetinopathyIoannis S Dimopoulos, Laryssa A Huryn, Robert B Hufnagel, et al.
Translational Vision Science & Technology|September 3, 2024
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African AmericansAgnes C Owete, Raisa Ionin, Laryssa A Huryn, et al.
Ophthalmic Genetics|March 23, 2023
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case reportEmile R Vieta-Ferrer, Ehsan Ullah, Delphine Blain, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

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Pageof 4
Archives of Ophthalmology (Chicago, Ill. : 1960)|March 12, 2008
Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE)Brian P Brooks, Ian M Macdonald, Santa J Tumminia, et al.
Human Mutation|June 13, 2020
Genotype-phenotype associations in a large PRPH2-related retinopathy cohortMelissa J Reeves, Kerry E Goetz, Bin Guan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 7, 2020
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE networkKerry E Goetz, Melissa J Reeves, Shaina Gagadam, et al.
JAMA Ophthalmology|June 9, 2022
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal PeptideBin Guan, Laryssa A Huryn, Andrew B Hughes, et al.
American Journal of Ophthalmology|November 17, 2025
The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and GeneticsBrian P Brooks, Alexandra T Hehn, Delphine Blain, et al.
Investigative Ophthalmology & Visual Science|August 17, 2013
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosaLori S Sullivan, Sara J Bowne, Melissa J Reeves, et al.
Human Mutation|December 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaVijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, et al.
Retina (Philadelphia, Pa.)|March 13, 2024
OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related RetinopathyIoannis S Dimopoulos, Laryssa A Huryn, Robert B Hufnagel, et al.
Translational Vision Science & Technology|September 3, 2024
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African AmericansAgnes C Owete, Raisa Ionin, Laryssa A Huryn, et al.
Ophthalmic Genetics|March 23, 2023
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case reportEmile R Vieta-Ferrer, Ehsan Ullah, Delphine Blain, et al.
Pageof 4