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Holger Prokisch

Showing results (301-310 of 370) with videos related to

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Brain : a Journal of Neurology|May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationSusan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Molecular Systems Biology|September 27, 2012
Novel biomarkers for pre-diabetes identified by metabolomicsRui Wang-Sattler, Zhonghao Yu, Christian Herder, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
American Journal of Human Genetics|December 20, 2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathySamira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 37

Showing results (301-310 of 370) with videos related to

Sort By:
Pageof 37
Brain : a Journal of Neurology|May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationSusan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Molecular Systems Biology|September 27, 2012
Novel biomarkers for pre-diabetes identified by metabolomicsRui Wang-Sattler, Zhonghao Yu, Christian Herder, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
American Journal of Human Genetics|December 20, 2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathySamira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 37