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Eva Morava

Showing results (121-130 of 355) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomicsPeter Witters, Ann Saada, Tomas Honzik, et al.
Genes|November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDGLaurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism|December 13, 2017
Renal involvement in PMM2-CDG, a mini-reviewRuqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Molecular Genetics and Metabolism|August 15, 2025
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case ReportNeil Jacob, Daniel Schecter, Molly Marshall, et al.
Molecular Genetics and Metabolism|July 5, 2024
Coagulation abnormalities and vascular complications are common in PGM1-CDGSilvia Radenkovic, Sofie Bleukx, Nicole Engelhardt, et al.
Electrophoresis|June 28, 2018
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patientsSandrine Duvet, Dounia Mouajjah, Romain Péanne, et al.
Biochimica Et Biophysica Acta|January 28, 2009
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxaMailys Guillard, Aikaterini Dimopoulou, Björn Fischer, et al.
Mitochondrion|December 15, 2010
Early detection of myocardial dysfunction in children with mitochondrial disease: An ultrasound and two-dimensional strain echocardiography studyKaren A Marcus, Marlieke Barends, Eva Morava-Kozicz, et al.
Mitochondrion|May 23, 2006
Females with PDHA1 gene mutations: a diagnostic challengeMarjolein Willemsen, Richard J T Rodenburg, Alexandra Teszas, et al.
The European Journal of Neuroscience|July 10, 2020
Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial functionTim L Emmerzaal, Leah Jacobs, Bram Geenen, et al.
Pageof 36

Showing results (121-130 of 355) with videos related to

Sort By:
Pageof 36
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomicsPeter Witters, Ann Saada, Tomas Honzik, et al.
Genes|November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDGLaurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism|December 13, 2017
Renal involvement in PMM2-CDG, a mini-reviewRuqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Molecular Genetics and Metabolism|August 15, 2025
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case ReportNeil Jacob, Daniel Schecter, Molly Marshall, et al.
Molecular Genetics and Metabolism|July 5, 2024
Coagulation abnormalities and vascular complications are common in PGM1-CDGSilvia Radenkovic, Sofie Bleukx, Nicole Engelhardt, et al.
Electrophoresis|June 28, 2018
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patientsSandrine Duvet, Dounia Mouajjah, Romain Péanne, et al.
Biochimica Et Biophysica Acta|January 28, 2009
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxaMailys Guillard, Aikaterini Dimopoulou, Björn Fischer, et al.
Mitochondrion|December 15, 2010
Early detection of myocardial dysfunction in children with mitochondrial disease: An ultrasound and two-dimensional strain echocardiography studyKaren A Marcus, Marlieke Barends, Eva Morava-Kozicz, et al.
Mitochondrion|May 23, 2006
Females with PDHA1 gene mutations: a diagnostic challengeMarjolein Willemsen, Richard J T Rodenburg, Alexandra Teszas, et al.
The European Journal of Neuroscience|July 10, 2020
Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial functionTim L Emmerzaal, Leah Jacobs, Bram Geenen, et al.
Pageof 36