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The Journal of Pediatrics|July 7, 2024
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular PhenotypesErica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, et al.Archives of Neurology|February 29, 2012
Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritisKevin Rostasy, Simone Mader, Kathrin Schanda, et al.Journal of Child Neurology|January 19, 2013
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experienceLena Schleede, Wolfgang Bueter, Sara Baumgartner-Sigl, et al.Neurology|August 4, 2017
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndromeEva-Maria Hennes, Matthias Baumann, Kathrin Schanda, et al.American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.Pageof 2