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Elife|April 18, 2017
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expressionNuno Rocha, David A Bulger, Andrea Frontini, et al.Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.Nature Communications|October 22, 2020
Early-onset autoimmunity associated with SOCS1 haploinsufficiencyJérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, et al.The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.Neurology|February 10, 2019
Clinical spectrum of STX1B-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.Pageof 3