Showing results (71-80 of 123) with videos related to

Sort By:
Pageof 13
Brain : a Journal of Neurology|October 16, 2016
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transportMarivi Nabong Moen, Roar Fjær, El Hassan Hamdani, et al.
Annals of Neurology|June 3, 2010
Megalencephalic leukoencephalopathy with cysts without MLC1 defectMarjo S van der Knaap, Vincent Lai, Wolfgang Köhler, et al.
Human Molecular Genetics|June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsStefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.
Saudi Medical Journal|March 15, 2006
Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associationsMustafa A Salih, Waleed R Murshid, Mussaad M Al-Salman, et al.
The Journal of Biological Chemistry|May 8, 2022
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndromeGhada I Aboheimed, Maha M AlRasheed, Sultan Almudimeegh, et al.
Saudi Medical Journal|March 15, 2006
Hematologic risk factors for stroke in Saudi childrenMustafa A Salih, Abdel-Galil M Abdel-Gader, Ahmed A Al-Jarallah, et al.
Saudi Medical Journal|March 15, 2006
Stroke in Saudi children. Epidemiology, clinical features and risk factorsMustafa A Salih, Abdel-Galil M Abdel-Gader, Ahmed A Al-Jarallah, et al.
Brain : a Journal of Neurology|February 14, 2013
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14Judith Cossins, Katsiaryna Belaya, Debbie Hicks, et al.
Neurogenetics|July 27, 2024
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changesKyle P Flannery, Sylvia Safwat, Eli Matsell, et al.
Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changesKyle P Flannery, Sylvia Safwat, Eli Matsell, et al.
Pageof 13