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Pediatric Neurology Briefs|March 3, 2016
Diagnostic NGS for Severe Neuromuscular DisordersRadhika Dhamija, Chelsea ChambersPediatric Neurology Briefs|April 8, 2016
Clinical and Molecular Characterization of ALG1-CDGRadhika Dhamija, Chelsea ChambersJournal of Genetic Counseling|November 6, 2015
Review of Commercially Available Epilepsy Genetic PanelsChelsea Chambers, Laura A Jansen, Radhika DhamijaNeurology. Clinical Practice|September 22, 2023
Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum DisordersChelsea Chambers, Lauren Lichten, Ashley Crook, et al.Journal of Child Neurology|November 14, 2017
A Case of KCNQ2-Associated Movement Disorder Triggered by FeverRadhika Dhamija, Howard P Goodkin, Russell Bailey, et al.Molecular Genetics & Genomic Medicine|March 27, 2018
Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKNEli S Williams, Matthew J Barrett, Radhika Dhamija, et al.Neurology. Genetics|December 4, 2023
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research NetworkPeter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, et al.Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.Brain : a Journal of Neurology|October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.Pageof 1