Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Handbook of Clinical Neurology|February 22, 2023
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosisLea D Schlieben, Holger Prokisch
Frontiers in Cell and Developmental Biology|December 16, 2020
The Dimensions of Primary Mitochondrial DisordersLea D Schlieben, Holger Prokisch
Frontiers in Molecular Biosciences|June 18, 2021
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing DataLea D Schlieben, Holger Prokisch, Vicente A Yépez
Human Mutation|June 1, 2022
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypesDmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, et al.
Journal of Inherited Metabolic Disease|January 27, 2024
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiencyBianca Peters, Tal Dattner, Lea D Schlieben, et al.
Frontiers in Pediatrics|March 6, 2024
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndromeIna Kirchberg, Elke Lainka, Andrea Gangfuß, et al.
The Journal of Molecular Diagnostics : JMD|February 23, 2024
Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA SequencingLea D Schlieben, Maria Giulia Carta, Evgeny A Moskalev, et al.
European Journal of Preventive Cardiology|July 9, 2025
Clinical scores fail to sufficiently identify children with Familial HypercholesterolemiaRaphael S Schmieder, Johannes Krefting, Sara Ates, et al.
Hepatology Communications|December 2, 2024
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failureLea D Schlieben, Melanie T Achleitner, Billy Bourke, et al.
The American Journal of Pathology|April 22, 2021
Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte DifferentiationFlorian Haller, Lea D Schlieben, Fulvia Ferrazzi, et al.
Pageof 2