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Can Ficicioglu

Showing results (81-90 of 110) with videos related to

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Orphanet Journal of Rare Diseases|May 31, 2012
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individualsSarah C Grünert, Martin Stucki, Raphael J Morscher, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
American Journal of Human Genetics|December 31, 2005
Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
The New England Journal of Medicine|May 13, 2026
Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector DeliveryRebecca C Ahrens-Nicklas, Chelsea Kotch, Aoife M Roche, et al.
Frontiers in Genetics|August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Amy Brower, Kee Chan, Marc Williams, 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.
Pageof 11

Showing results (81-90 of 110) with videos related to

Sort By:
Pageof 11
Orphanet Journal of Rare Diseases|May 31, 2012
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individualsSarah C Grünert, Martin Stucki, Raphael J Morscher, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
American Journal of Human Genetics|December 31, 2005
Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
The New England Journal of Medicine|May 13, 2026
Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector DeliveryRebecca C Ahrens-Nicklas, Chelsea Kotch, Aoife M Roche, et al.
Frontiers in Genetics|August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Amy Brower, Kee Chan, Marc Williams, 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.
Pageof 11