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 (191-200 of 355) with videos related to

Pageof 36
Sort By:
Human Mutation|October 17, 2006
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative casesLorne Lonie, Daniel E Porter, Maria Fraser, et al.
Clinical Chemistry|December 16, 2006
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defectsSuzan Wopereis, Stephanie Grünewald, Karin M L C Huijben, et al.
Journal of Inherited Metabolic Disease|May 12, 2019
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethalityBijina Balakrishnan, Jan Verheijen, Arielle Lupo, et al.
Disease Models & Mechanisms|October 23, 2019
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDGSangeetha Iyer, Feba S Sam, Nina DiPrimio, et al.
The Journal of Clinical Endocrinology and Metabolism|March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation DefectsWilly Morelle, Sven Potelle, Peter Witters, et al.
JIMD Reports|May 13, 2020
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1Katelynn M Wilton, Joel A Morales-Rosado, Duygu Selcen, et al.
JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
American Journal of Medical Genetics. Part A|October 19, 2010
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi traffickingBeate Albrecht, Arjan P de Brouwer, Dirk J Lefeber, et al.
Biomolecules|March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDGHamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Pageof 36

Showing results (191-200 of 355) with videos related to

Sort By:
Pageof 36
Human Mutation|October 17, 2006
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative casesLorne Lonie, Daniel E Porter, Maria Fraser, et al.
Clinical Chemistry|December 16, 2006
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defectsSuzan Wopereis, Stephanie Grünewald, Karin M L C Huijben, et al.
Journal of Inherited Metabolic Disease|May 12, 2019
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethalityBijina Balakrishnan, Jan Verheijen, Arielle Lupo, et al.
Disease Models & Mechanisms|October 23, 2019
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDGSangeetha Iyer, Feba S Sam, Nina DiPrimio, et al.
The Journal of Clinical Endocrinology and Metabolism|March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation DefectsWilly Morelle, Sven Potelle, Peter Witters, et al.
JIMD Reports|May 13, 2020
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1Katelynn M Wilton, Joel A Morales-Rosado, Duygu Selcen, et al.
JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
American Journal of Medical Genetics. Part A|October 19, 2010
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi traffickingBeate Albrecht, Arjan P de Brouwer, Dirk J Lefeber, et al.
Biomolecules|March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDGHamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Pageof 36