Showing results (31-40 of 108) with videos related to
Sort By:
Pageof 11
Epilepsia|February 13, 2022
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotypeFlorian D Vogel, Martin Krenn, Dominik S Westphal, et al.American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.Neuropediatrics|March 28, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years AgoMaureen Jacob, Melanie Brugger, Stephanie Andres, et al.Nature Communications|February 2, 2020
Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient miceSusanne Keipert, Dominik Lutter, Bjoern O Schroeder, et al.JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.European Journal of Medical Genetics|March 5, 2013
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMichaela Auer-Grumbach, Heiko Bode, Thomas R Pieber, et al.Journal of Medical Genetics|February 23, 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genesMartin Krenn, Matias Wagner, Christoph Hotzy, et al.American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.American Journal of Human Genetics|September 25, 2012
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-BrauerKathrin A Giehl, Gertrud N Eckstein, Sandra M Pasternack, et al.Pageof 11