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Mariya Moosajee

Showing results (171-180 of 176) with videos related to

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Ophthalmology|January 18, 2019
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye DisordersAara Patel, Jane D Hayward, Vijay Tailor, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United KingdomWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science|February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United KingdomWilliam A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 18

Showing results (171-180 of 176) with videos related to

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Pageof 18
You have reached the last page of results.This site can display upto 176 results.
Ophthalmology|January 18, 2019
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye DisordersAara Patel, Jane D Hayward, Vijay Tailor, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United KingdomWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science|February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United KingdomWilliam A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 18