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Cold Spring Harbor Molecular Case Studies|June 16, 2018
De novo MYH9 mutation in congenital scalp hemangiomaElena I Fomchenko, Daniel Duran, Sheng Chih Jin, et al.
Medrxiv : the Preprint Server for Health Sciences|May 2, 2025
Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral NeuropathyZitian Tang, Sinem S Ovunc, Elle Mehinovic, et al.
Human Molecular Genetics|June 6, 2014
Coding variants in TREM2 increase risk for Alzheimer's diseaseSheng Chih Jin, Bruno A Benitez, Celeste M Karch, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 26, 2019
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motilityAndrew Robson, Svetlana Z Makova, Syndi Barish, et al.
Annals of Neurology|April 11, 2026
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral NeuropathyZitian Tang, Sinem S Ovunc, Ryo Iwase, et al.
Plos Genetics|August 31, 2013
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriersBruno A Benitez, Celeste M Karch, Yefei Cai, et al.
Trends in Neurosciences|October 9, 2021
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targetsTyrone DeSpenza, Marina Carlson, Shreyas Panchagnula, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 13, 2021
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literatureWalid Fazeli, Daniel Bamborschke, Abubakar Moawia, et al.
JCI Insight|December 14, 2021
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitorsClara Sze Man Tang, Mimmi Mononen, Wai-Yee Lam, et al.
Frontiers in Cellular Neuroscience|October 17, 2019
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3August A Allocco, Sheng Chih Jin, Phan Q Duy, et al.
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