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

M Zein

Showing results (71-80 of 130) with videos related to

Pageof 13
Sort By:
Neurology. Genetics|May 24, 2017
HSP and deafness: Neurocristopathy caused by a novel mosaic <i>SOX10</i> mutationSandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, et al.
F1000Research|July 31, 2019
Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patientDavid H McDermott, Lauren E Heusinkveld, Wadih M Zein, et al.
Investigative Ophthalmology & Visual Science|July 28, 2022
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics ImagingTao Liu, Nancy Aguilera, Andrew J Bower, et al.
Orphanet Journal of Rare Diseases|February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruisingBradley Power, Carlos R Ferreira, Dong Chen, et al.
Ophthalmic Genetics|May 7, 2020
Atypical and ultra-rare Usher syndrome: a reviewRosalie M Nolen, Robert B Hufnagel, Thomas B Friedman, et al.
The British Journal of Ophthalmology|June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndromeLaryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, 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.
Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.
Pageof 13

Showing results (71-80 of 130) with videos related to

Sort By:
Pageof 13
Neurology. Genetics|May 24, 2017
HSP and deafness: Neurocristopathy caused by a novel mosaic <i>SOX10</i> mutationSandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, et al.
F1000Research|July 31, 2019
Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patientDavid H McDermott, Lauren E Heusinkveld, Wadih M Zein, et al.
Investigative Ophthalmology & Visual Science|July 28, 2022
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics ImagingTao Liu, Nancy Aguilera, Andrew J Bower, et al.
Orphanet Journal of Rare Diseases|February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruisingBradley Power, Carlos R Ferreira, Dong Chen, et al.
Ophthalmic Genetics|May 7, 2020
Atypical and ultra-rare Usher syndrome: a reviewRosalie M Nolen, Robert B Hufnagel, Thomas B Friedman, et al.
The British Journal of Ophthalmology|June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndromeLaryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, 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.
Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.
Pageof 13