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Neurology|January 4, 2024
Pearls & Oy-sters: <i>CACNA1A</i>-Related Paroxysmal Tonic Upgaze With Ataxia Responsive to AcetazolamideSteven M Lazar, Farida AbidPediatric Neurology|December 13, 2006
Cranial nerve palsies in renal osteodystrophyFarida Abid, Irfan Lalani, Asma Zakaria, et al.Muscle & Nerve|November 4, 2020
Clinical exome sequencing in the diagnosis of pediatric neuromuscular diseaseIsabella Herman, Michael A Lopez, Dana Marafi, et al.Pediatric Neurology|March 8, 2021
Pediatric Autoimmune Ocular Myasthenia Gravis: Evaluation of Presentation and Treatment Outcomes in a Large CohortKristen S Fisher, Jason Gill, Hannah F Todd, et al.Annals of Clinical and Translational Neurology|September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variantDaniel G Calame, Jawid M Fatih, Isabella Herman, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.Pageof 1