Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Brian P Brooks

Showing results (61-70 of 158) with videos related to

Pageof 16
Sort By:
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.
American Journal of Medical Genetics. Part A|October 7, 2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez, Benjamin D Solomon, Erich Roessler, et al.
Stem Cell Reports|January 12, 2022
In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epitheliumAman George, Ruchi Sharma, Tyler Pfister, et al.
American Journal of Ophthalmology|May 21, 2023
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic CorrelatesMaximilian Pfau, Laryssa A Huryn, Marisa P Boyle, 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.
Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, 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.
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 C, Seminars in Medical Genetics|March 21, 2022
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosisRaeLynn Forsyth, Melissa A Parisi, Burak Altintas, et al.
Pageof 16

Showing results (61-70 of 158) with videos related to

Sort By:
Pageof 16
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.
American Journal of Medical Genetics. Part A|October 7, 2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez, Benjamin D Solomon, Erich Roessler, et al.
Stem Cell Reports|January 12, 2022
In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epitheliumAman George, Ruchi Sharma, Tyler Pfister, et al.
American Journal of Ophthalmology|May 21, 2023
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic CorrelatesMaximilian Pfau, Laryssa A Huryn, Marisa P Boyle, 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.
Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, 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.
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 C, Seminars in Medical Genetics|March 21, 2022
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosisRaeLynn Forsyth, Melissa A Parisi, Burak Altintas, et al.
Pageof 16