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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndromePerrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.Research and Practice in Thrombosis and Haemostasis|July 28, 2026
Corrigendum to 'Platelet dense granule defect: experience in the French population' [Research and Practice in Thrombosis and Haemostasis Volume 10, Issue 2, February 2026, 103364]Delphine Borgel, Agathe Beauvais, Cécile Bally, et al.Blood|September 15, 2018
A mutation of the humanEliane Berrou, Christelle Soukaseum, Rémi Favier, 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.The Journal of Clinical Investigation|September 3, 2024
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyMarta Benavides-Nieto, Frédéric Adam, Emmanuel Martin, et al.Haematologica|March 4, 2017
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic featuresPaul Saultier, Léa Vidal, Matthias Canault, et al.Circulation Research|October 26, 2023
Shear Forces Induced Platelet Clearance Is a New Mechanism of ThrombocytopeniaAntoine Rauch, Annabelle Dupont, Mickael Rosa, et al.Blood|June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaClaire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.Blood|March 23, 2023
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunityCharlotte Boussard, Laure Delage, Tania Gajardo, et al.Pageof 5