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Eva Morava

Showing results (301-310 of 355) with videos related to

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Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
The Journal of Allergy and Clinical Immunology|November 28, 2019
Defining a new immune deficiency syndrome: MAN2B2-CDGJan Verheijen, Sunnie Y Wong, Jared H Rowe, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 23, 2021
Early role for a Na<sup>+</sup>,K<sup>+</sup>-ATPase (<i>ATP1A3</i>) in brain developmentRichard S Smith, Marta Florio, Shyam K Akula, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
Erratum to: TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Annals of Neurology|October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic ImplicationsAnna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Pageof 36

Showing results (301-310 of 355) with videos related to

Sort By:
Pageof 36
Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
The Journal of Allergy and Clinical Immunology|November 28, 2019
Defining a new immune deficiency syndrome: MAN2B2-CDGJan Verheijen, Sunnie Y Wong, Jared H Rowe, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 23, 2021
Early role for a Na<sup>+</sup>,K<sup>+</sup>-ATPase (<i>ATP1A3</i>) in brain developmentRichard S Smith, Marta Florio, Shyam K Akula, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
Erratum to: TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Annals of Neurology|October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic ImplicationsAnna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Pageof 36