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Holger Prokisch

Showing results (201-210 of 395) with videos related to

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Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Pediatric Pulmonology|August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variantsDominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI studyVeronika Sanin, Raphael Schmieder, Sara Ates, et al.
Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Dilution of candidates: the case of iron-related genes in restless legs syndromeKonrad Oexle, Barbara Schormair, Janina S Ried, et al.
American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
European Journal of Public Health|February 15, 2022
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI studyVeronika Sanin, Raphael Schmieder, Sara Ates, et al.
Pageof 40

Showing results (201-210 of 395) with videos related to

Sort By:
Pageof 40
Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Pediatric Pulmonology|August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variantsDominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI studyVeronika Sanin, Raphael Schmieder, Sara Ates, et al.
Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Dilution of candidates: the case of iron-related genes in restless legs syndromeKonrad Oexle, Barbara Schormair, Janina S Ried, et al.
American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
European Journal of Public Health|February 15, 2022
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI studyVeronika Sanin, Raphael Schmieder, Sara Ates, et al.
Pageof 40