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

Matthias Baumgartner

Showing results (11-20 of 40) with videos related to

Pageof 4
Sort By:
Transplant International : Official Journal of the European Society for Organ Transplantation|September 12, 2015
Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-upChiara Arrizza, Andrea De Gottardi, Ezio Foglia, et al.
Deutsches Arzteblatt International|July 5, 2013
One-year evaluation of a neonatal screening program for cystic fibrosis in SwitzerlandCorina S Rueegg, Claudia E Kuehni, Sabina Gallati, et al.
Journal of Inherited Metabolic Disease|August 3, 2023
Risk and potential of ChatGPT in scientific publishingVerena Peters, Matthias Baumgartner, Sean Froese, et al.
European Journal of Human Genetics : EJHG|January 17, 2013
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiencyLars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, et al.
Journal of Inherited Metabolic Disease|May 11, 2026
How Much AI Can Scientific Publishing Tolerate?Verena Peters, Matthias Baumgartner, Nicola Brunetti-Pierri, et al.
Pediatric Nephrology (Berlin, Germany)|April 21, 2015
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiencyJens C Koenig, Frank Rutsch, Clemens Bockmeyer, et al.
Developmental Medicine and Child Neurology|April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiencyBernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Swiss Medical Weekly|October 14, 2025
Healthcare resource allocation for rare diseases: an exploratory survey of Swiss citizens' preferencesFederico Germani, Giovanni Spitale, Carola Fischer, et al.
Human Molecular Genetics|August 20, 2009
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylationPatricie Paesold-Burda, Charlotte Maag, Heinz Troxler, et al.
Cells|December 8, 2020
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural PrecursorsSilvin Lito, Adama Sidibe, Sten Ilmjarv, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Transplant International : Official Journal of the European Society for Organ Transplantation|September 12, 2015
Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-upChiara Arrizza, Andrea De Gottardi, Ezio Foglia, et al.
Deutsches Arzteblatt International|July 5, 2013
One-year evaluation of a neonatal screening program for cystic fibrosis in SwitzerlandCorina S Rueegg, Claudia E Kuehni, Sabina Gallati, et al.
Journal of Inherited Metabolic Disease|August 3, 2023
Risk and potential of ChatGPT in scientific publishingVerena Peters, Matthias Baumgartner, Sean Froese, et al.
European Journal of Human Genetics : EJHG|January 17, 2013
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiencyLars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, et al.
Journal of Inherited Metabolic Disease|May 11, 2026
How Much AI Can Scientific Publishing Tolerate?Verena Peters, Matthias Baumgartner, Nicola Brunetti-Pierri, et al.
Pediatric Nephrology (Berlin, Germany)|April 21, 2015
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiencyJens C Koenig, Frank Rutsch, Clemens Bockmeyer, et al.
Developmental Medicine and Child Neurology|April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiencyBernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Swiss Medical Weekly|October 14, 2025
Healthcare resource allocation for rare diseases: an exploratory survey of Swiss citizens' preferencesFederico Germani, Giovanni Spitale, Carola Fischer, et al.
Human Molecular Genetics|August 20, 2009
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylationPatricie Paesold-Burda, Charlotte Maag, Heinz Troxler, et al.
Cells|December 8, 2020
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural PrecursorsSilvin Lito, Adama Sidibe, Sten Ilmjarv, et al.
Pageof 4