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Sophie Cholet

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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.

Journal of Inherited Metabolic Disease|October 24, 2025

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, 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 Hepatology|November 29, 2019

Blood metabolomics uncovers inflammation-associated mitochondrial dysfunction as a potential mechanism underlying ACLFRichard Moreau, Joan Clària, Ferran Aguilar, et al.

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Search research articles

Showing results (21-30 of 24) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 24 results.

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.

Journal of Inherited Metabolic Disease|October 24, 2025

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, 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 Hepatology|November 29, 2019

Blood metabolomics uncovers inflammation-associated mitochondrial dysfunction as a potential mechanism underlying ACLFRichard Moreau, Joan Clària, Ferran Aguilar, et al.

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