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Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Journal of Inherited Metabolic Disease|April 16, 2024
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry diseaseWladimir Mauhin, Gaelle Dzangue-Tchoupou, Damien Amelin, et al.
Human Mutation|April 10, 2013
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALSHélène Blasco, Nathalie Bernard-Marissal, Patrick Vourc'h, et al.
British Journal of Haematology|August 31, 2019
In situ BCL2 expression is an independent prognostic factor in HIV-associated DLBCL, a LYMPHOVIR cohort studyLaure Philippe, Remi Lancar, Camille Laurent, et al.
Eclinicalmedicine|October 19, 2020
Determinants of outcome in Covid-19 hospitalized patients with lymphoma: A retrospective multicentric cohort studySylvain Lamure, Rémy Duléry, Roberta Di Blasi, et al.
Blood|October 9, 2014
BCR-ABL1 promotes leukemia by converting p27 into a cytoplasmic oncoproteinAnupriya Agarwal, Ryan J Mackenzie, Arnaud Besson, et al.
Methods (San Diego, Calif.)|October 18, 2015
Metadata management for high content screening in OMEROSimon Li, Sébastien Besson, Colin Blackburn, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|March 10, 2012
Lower respiratory infections among hospitalized children in New Caledonia: a pilot study for the Pneumonia Etiology Research for Child Health projectSylvain Mermond, Virginie Zurawski, Eric D'Ortenzio, et al.
Journal of Inherited Metabolic Disease|May 20, 2021
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patientsSégolène Toquet, Marta Spodenkiewicz, Claire Douillard, et al.
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