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Annals of Clinical and Translational Neurology|July 6, 2026
Bi- and Mono-Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal NeuropathyAmro M Stino, Lavanya Muthukumar, Evan L Reynolds, et al.Neuron|January 6, 2022
Brain ventricles as windows into brain development and diseasePhan Q Duy, Pasko Rakic, Seth L Alper, et al.Molecular Neurodegeneration|April 21, 2016
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's DiseaseBruno A Benitez, Albert A Davis, Sheng Chih Jin, et al.Annals of Clinical and Translational Neurology|March 6, 2021
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndromeIvana Dzinovic, Matej Škorvánek, Petra Pavelekova, et al.Neurology. Genetics|August 4, 2021
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual DisabilitySara A Lewis, Somayeh Bakhtiari, Jennifer Heim, et al.Journal of Neurosurgery. Pediatrics|October 29, 2021
Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalusGarrett Allington, Phan Q Duy, Jian Ryou, et al.Molecular Genetics & Genomic Medicine|August 9, 2019
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalusSheng Chih Jin, Charuta G Furey, Xue Zeng, et al.Computational and Structural Biotechnology Journal|April 17, 2026
SnakeAltPromoter Facilitates Differential Alternative Promoter AnalysisJiang Tan, Yuqing Wu, Ruteja Barve, et al.Molecular Genetics & Genomic Medicine|April 28, 2022
Mutation spectrum of congenital heart disease in a consanguineous Turkish populationWeilai Dong, Hande Kaymakcalan, Sheng Chih Jin, et al.Cerebral Cortex (New York, N.Y. : 1991)|September 13, 2022
A neural stem cell paradigm of pediatric hydrocephalusPhan Q Duy, Pasko Rakic, Seth L Alper, et al.Pageof 10