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JAMA Neurology|June 14, 2021
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya DiseaseAdam J Kundishora, Samuel T Peters, Amélie Pinard, et al.
Nature Neuroscience|June 20, 2017
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's diseaseKuan-Lin Huang, Edoardo Marcora, Anna A Pimenova, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsyPritha Bisarad, Yung-Chun Wang, Peter T Skidmore, et al.
Nature Genetics|May 4, 2010
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4Terri H Beaty, Jeffrey C Murray, Mary L Marazita, et al.
Nature|December 17, 2013
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's diseaseCarlos Cruchaga, Celeste M Karch, Sheng Chih Jin, et al.
Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Medicine|October 20, 2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalusSheng Chih Jin, Weilai Dong, Adam J Kundishora, et al.
Nature Communications|November 17, 2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.
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