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Robyn V Jamieson

Showing results (71-80 of 78) with videos related to

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Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderLloyd B Williams, Asif Javed, Amin Sabri, et al.
Investigative Ophthalmology & Visual Science|May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.
Pageof 8

Showing results (71-80 of 78) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 78 results.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderLloyd B Williams, Asif Javed, Amin Sabri, et al.
Investigative Ophthalmology & Visual Science|May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.
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