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

Delphine Borgel

Showing results (91-100 of 99) with videos related to

Pageof 10
Sort By:
You have reached the last page of results.This site can display upto 99 results.
Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Journal of Thrombosis and Haemostasis : JTH|May 19, 2023
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylationAlexandre Kauskot, Coralie Mallebranche, Arnaud Bruneel, et al.
Haematologica|March 2, 2019
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidenceAnnabelle Dupont, Christelle Soukaseum, Mathilde Cheptou, et al.
EMBO Molecular Medicine|November 18, 2018
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiologyAthanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, et al.
American Journal of Hematology|October 25, 2025
Protein S Enhances the Phagocytosis of Phosphatidylserine-Exposing Erythrocytes: Implications in Sickle Cell DiseaseClaire Auditeau, Aurélie Fricot, Raphaël Gauthier, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
American Journal of Human Genetics|May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunctionBobby G Ng, Paulina Sosicka, François Fenaille, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Pageof 10

Showing results (91-100 of 99) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 99 results.
Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Journal of Thrombosis and Haemostasis : JTH|May 19, 2023
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylationAlexandre Kauskot, Coralie Mallebranche, Arnaud Bruneel, et al.
Haematologica|March 2, 2019
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidenceAnnabelle Dupont, Christelle Soukaseum, Mathilde Cheptou, et al.
EMBO Molecular Medicine|November 18, 2018
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiologyAthanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, et al.
American Journal of Hematology|October 25, 2025
Protein S Enhances the Phagocytosis of Phosphatidylserine-Exposing Erythrocytes: Implications in Sickle Cell DiseaseClaire Auditeau, Aurélie Fricot, Raphaël Gauthier, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
American Journal of Human Genetics|May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunctionBobby G Ng, Paulina Sosicka, François Fenaille, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Pageof 10