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Human Mutation
|
June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yield
Alan 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 humans
Samir 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 disorders
Alan Ma, Saira Yousoof, John R Grigg, et al.
Plos One
|
March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders
Kagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Investigative Ophthalmology & Visual Science
|
April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings
Rachael 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 disorder
Lloyd 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 Patients
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Cell
|
January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Max A Tischfield, Hagit N Baris, Chen Wu, et al.
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Search research articles
Search
Showing results (71-80 of 78) with videos related to
Sort By:
Page
of 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 yield
Alan 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 humans
Samir 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 disorders
Alan Ma, Saira Yousoof, John R Grigg, et al.
Plos One
|
March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders
Kagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Investigative Ophthalmology & Visual Science
|
April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings
Rachael 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 disorder
Lloyd 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 Patients
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Cell
|
January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Max A Tischfield, Hagit N Baris, Chen Wu, et al.
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of 8