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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 genomics
Peter Witters, Ann Saada, Tomas Honzik, et al.
Genes
|
November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDG
Laurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism
|
December 13, 2017
Renal involvement in PMM2-CDG, a mini-review
Ruqaiah 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 Report
Neil Jacob, Daniel Schecter, Molly Marshall, et al.
Molecular Genetics and Metabolism
|
July 5, 2024
Coagulation abnormalities and vascular complications are common in PGM1-CDG
Silvia Radenkovic, Sofie Bleukx, Nicole Engelhardt, et al.
Electrophoresis
|
June 28, 2018
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients
Sandrine Duvet, Dounia Mouajjah, Romain Péanne, et al.
Biochimica Et Biophysica Acta
|
January 28, 2009
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Mailys 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 study
Karen A Marcus, Marlieke Barends, Eva Morava-Kozicz, et al.
Mitochondrion
|
May 23, 2006
Females with PDHA1 gene mutations: a diagnostic challenge
Marjolein 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 function
Tim L Emmerzaal, Leah Jacobs, Bram Geenen, et al.
Page
of 36
Search research articles
Search
Showing results (121-130 of 355) with videos related to
Sort By:
Page
of 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 genomics
Peter Witters, Ann Saada, Tomas Honzik, et al.
Genes
|
November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDG
Laurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism
|
December 13, 2017
Renal involvement in PMM2-CDG, a mini-review
Ruqaiah 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 Report
Neil Jacob, Daniel Schecter, Molly Marshall, et al.
Molecular Genetics and Metabolism
|
July 5, 2024
Coagulation abnormalities and vascular complications are common in PGM1-CDG
Silvia Radenkovic, Sofie Bleukx, Nicole Engelhardt, et al.
Electrophoresis
|
June 28, 2018
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients
Sandrine Duvet, Dounia Mouajjah, Romain Péanne, et al.
Biochimica Et Biophysica Acta
|
January 28, 2009
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Mailys 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 study
Karen A Marcus, Marlieke Barends, Eva Morava-Kozicz, et al.
Mitochondrion
|
May 23, 2006
Females with PDHA1 gene mutations: a diagnostic challenge
Marjolein 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 function
Tim L Emmerzaal, Leah Jacobs, Bram Geenen, et al.
Page
of 36