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Katharina Danhauser

Showing results (1-10 of 25) with videos related to

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Studies in Health Technology and Informatics|August 23, 2024
Optimizing Data Extraction: Harnessing RAG and LLMs for German Medical DocumentsYingding Wang, Simon Leutner, Michael Ingrisch, et al.
PLOS Digital Health|July 23, 2025
Using large language models to extract information from pediatric clinical reportsKatharina Danhauser, Yingding Wang, Christoph Klein, et al.
Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease|February 18, 2015
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial diseaseKatharina Danhauser, Jan A M Smeitink, Peter Freisinger, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
EMBO Molecular Medicine|May 27, 2025
Ontology-guided clustering enables proteomic analysis of rare pediatric disordersEricka C M Itang, Vincent Albrecht, Alicia-Sophie Schebesta, 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.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Studies in Health Technology and Informatics|August 23, 2024
Optimizing Data Extraction: Harnessing RAG and LLMs for German Medical DocumentsYingding Wang, Simon Leutner, Michael Ingrisch, et al.
PLOS Digital Health|July 23, 2025
Using large language models to extract information from pediatric clinical reportsKatharina Danhauser, Yingding Wang, Christoph Klein, et al.
Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease|February 18, 2015
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial diseaseKatharina Danhauser, Jan A M Smeitink, Peter Freisinger, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
EMBO Molecular Medicine|May 27, 2025
Ontology-guided clustering enables proteomic analysis of rare pediatric disordersEricka C M Itang, Vincent Albrecht, Alicia-Sophie Schebesta, 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.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
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