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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2023
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directionsKarthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Incidence and disease burden of chemotherapy-induced peripheral neuropathy in a population-based cohortArya Shah, E Matthew Hoffman, Michelle L Mauermann, et al.Seizure|May 6, 2008
The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care centerMaria A Montenegro, Douglas Sproule, Arthur Mandel, et al.Orphanet Journal of Rare Diseases|February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history studyPeter Witters, Andrew C Edmondson, Christina Lam, et al.Journal of Child Neurology|January 29, 2011
An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type CHelly R Goez, Francois D Jacob, Robert D Fealey, et al.Neuro-Oncology Practice|November 27, 2023
Plasma exchange as a tool for removal of bevacizumab: Highlighting application for urgent surgeryBryan J Neth, Jeffrey L Winters, Revathi Thirumushi Sairaj, et al.Pediatric Neurology|January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelayDerek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.Frontiers in Endocrinology|June 6, 2017
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New BeginningsIllana Gozes, Marc C Patterson, Anke Van Dijck, et al.Human Mutation|September 5, 2003
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1Walter D Park, John F O'Brien, Patrick A Lundquist, et al.Orphanet Journal of Rare Diseases|November 25, 2021
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspectiveEugen Mengel, Marc C Patterson, Michael Chladek, et al.Pageof 16