Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Eva Morava

Showing results (271-280 of 355) with videos related to

Pageof 36
Sort By:
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
BMC Neurology|April 22, 2026
Blood mitochondrial heteroplasmic variants and cognitive performance in late midlife: REGARDS studyDiddier Prada, Eva Morava-Kozicz, Aravind Lathika Rajendrakumar, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
American Journal of Human Genetics|May 12, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorderEva Morava, Ulrich A Schatz, Pernille M Torring, et al.
Molecular Genetics and Metabolism|November 1, 2020
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylationSilvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
Cells|January 28, 2026
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDGRameen Shah, Rohit Budhhraja, Silvia Radenkovic, et al.
NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.
Biorxiv : the Preprint Server for Biology|August 12, 2025
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDGRameen Shah, Rohit Budhraja, Silvia Radenkovic, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional studyFlorian Barthélémy, Claire Navarro, Racha Fayek, et al.
Pageof 36

Showing results (271-280 of 355) with videos related to

Sort By:
Pageof 36
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
BMC Neurology|April 22, 2026
Blood mitochondrial heteroplasmic variants and cognitive performance in late midlife: REGARDS studyDiddier Prada, Eva Morava-Kozicz, Aravind Lathika Rajendrakumar, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
American Journal of Human Genetics|May 12, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorderEva Morava, Ulrich A Schatz, Pernille M Torring, et al.
Molecular Genetics and Metabolism|November 1, 2020
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylationSilvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
Cells|January 28, 2026
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDGRameen Shah, Rohit Budhhraja, Silvia Radenkovic, et al.
NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.
Biorxiv : the Preprint Server for Biology|August 12, 2025
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDGRameen Shah, Rohit Budhraja, Silvia Radenkovic, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional studyFlorian Barthélémy, Claire Navarro, Racha Fayek, et al.
Pageof 36