Showing results (441-450 of 857) with videos related to

Sort By:
Pageof 86
Neurology. Genetics|June 8, 2017
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlationMichael Alber, Vera M Kalscheuer, Elysa Marco, et al.
Neurology. Genetics|June 8, 2017
Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7TSailaja Golla, Jimin Ren, Craig R Malloy, et al.
Neurology. Genetics|February 7, 2022
Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular InvolvementIyas Daghlas, Muralidharan Sargurupremraj, Rebecca Danning, et al.
Neurology. Genetics|February 21, 2022
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical FeaturesYu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, et al.
Neurology. Genetics|July 13, 2022
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth RetardationNorah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
Neurology. Genetics|March 14, 2022
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense SubstitutionAngelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, et al.
Neurology. Genetics|December 4, 2023
Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysisJulie Barberio, Cathy Lally, Varant Kupelian, et al.
Neurology. Genetics|December 4, 2023
Adult Phenotype of SYNGAP1-DEEMarlene Rong, Tim Benke, Quratulain Zulfiqar Ali, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Neurology. Genetics|August 2, 2023
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case ReportShotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, et al.
Pageof 86