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Can Ficicioglu

Showing results (91-100 of 110) with videos related to

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Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Nature Communications|February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Communications|January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Pageof 11

Showing results (91-100 of 110) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Nature Communications|February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Communications|January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Pageof 11