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

Bertil Glader

Showing results (31-40 of 57) with videos related to

Pageof 6
Sort By:
Human Genetics|July 2, 2013
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemiaMichael Landowski, Marie-Françoise O'Donohue, Christopher Buros, et al.
BMJ Open|March 23, 2023
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study designRachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, et al.
British Journal of Haematology|May 29, 2020
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiencyHanny Al-Samkari, Kathryn Addonizio, Bertil Glader, et al.
Pediatric Blood & Cancer|October 7, 2020
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia RegistryAdrianna Vlachos, Evangelia Atsidaftos, Mohammad Lutfi Lababidi, et al.
European Journal of Haematology|December 28, 2020
Comorbidities and complications in adults with pyruvate kinase deficiencyAudra N Boscoe, Yan Yan, Elizabeth Hedgeman, et al.
Pediatric Blood & Cancer|June 14, 2021
Pyruvate kinase deficiency in childrenSatheesh Chonat, Stefan W Eber, Susanne Holzhauer, et al.
American Journal of Hematology|October 26, 2018
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiencyPaola Bianchi, Elisa Fermo, Bertil Glader, et al.
American Journal of Human Genetics|February 2, 2010
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemiaLeana Doherty, Mee Rie Sheen, Adrianna Vlachos, et al.
Human Mutation|March 21, 2012
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaHanna T Gazda, Milena Preti, Mee Rie Sheen, et al.
Haematologica|April 16, 2026
Immunosuppressive therapy for severe aplastic anemia in children under the age of 3 years yields a high response rate: a North American collaborative studyTalya Wittmann Dayagi, Laura Willis, Staci D Arnold, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
Human Genetics|July 2, 2013
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemiaMichael Landowski, Marie-Françoise O'Donohue, Christopher Buros, et al.
BMJ Open|March 23, 2023
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study designRachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, et al.
British Journal of Haematology|May 29, 2020
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiencyHanny Al-Samkari, Kathryn Addonizio, Bertil Glader, et al.
Pediatric Blood & Cancer|October 7, 2020
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia RegistryAdrianna Vlachos, Evangelia Atsidaftos, Mohammad Lutfi Lababidi, et al.
European Journal of Haematology|December 28, 2020
Comorbidities and complications in adults with pyruvate kinase deficiencyAudra N Boscoe, Yan Yan, Elizabeth Hedgeman, et al.
Pediatric Blood & Cancer|June 14, 2021
Pyruvate kinase deficiency in childrenSatheesh Chonat, Stefan W Eber, Susanne Holzhauer, et al.
American Journal of Hematology|October 26, 2018
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiencyPaola Bianchi, Elisa Fermo, Bertil Glader, et al.
American Journal of Human Genetics|February 2, 2010
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemiaLeana Doherty, Mee Rie Sheen, Adrianna Vlachos, et al.
Human Mutation|March 21, 2012
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaHanna T Gazda, Milena Preti, Mee Rie Sheen, et al.
Haematologica|April 16, 2026
Immunosuppressive therapy for severe aplastic anemia in children under the age of 3 years yields a high response rate: a North American collaborative studyTalya Wittmann Dayagi, Laura Willis, Staci D Arnold, et al.
Pageof 6