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Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusAmrita K Singh, Stephen Viviano, Garrett Allington, et al.
Brain : a Journal of Neurology|December 21, 2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K Singh, Garrett Allington, Stephen Viviano, et al.
Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.
Science Translational Medicine|July 8, 2026
Developmental genetic determinants of the human cerebrospinal fluid-ventricular systemGarrett Allington, Evan Dennis, Qiang Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamicsTyrone DeSpenza, Amrita Singh, Garrett Allington, et al.
Nature Medicine|March 6, 2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cystsAdam J Kundishora, Garrett Allington, Stephen McGee, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probandsWeilai Dong, Sheng Chih Jin, Michael C Sierant, et al.
Genetic Epidemiology|May 28, 2011
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palateTerri H Beaty, Ingo Ruczinski, Jeffrey C Murray, et al.
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