Showing results (81-90 of 108) with videos related to
Sort By:
Pageof 11
Neurology. Genetics|December 12, 2018
TPP2 mutation associated with sterile brain inflammation mimicking MSEva M Reinthaler, Elisabeth Graf, Tobias Zrzavy, et al.Nature Genetics|February 19, 2013
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertensionFelix Beuschlein, Sheerazed Boulkroun, Andrea Osswald, et al.American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.American Journal of Human Genetics|July 19, 2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAlexander Zimprich, Anna Benet-Pagès, Walter Struhal, et al.American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.Pageof 11