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1
المؤلفون: Solenne Le Louet, Véronique Icart, Marion Strullu, Arnaud Petit, Claire Freycon, Pascale Blouin, Jill Serre, Nicolas Rama, Yves Reguerre, Christophe Piguet, Marlène Pasquet, Audrey David, Pauline Simon, Marilyne Poiree, Liana Carausu, Fanny Rialland, Wadih Abouchahla, Paul Saultier, Stéphane Ducassou, Julie Valduga, André Baruchel, Yves Bertrand, Carine Domenech
المصدر: Journal of Cancer. 13:1272-1281
مصطلحات موضوعية: Oncology
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المؤلفون: Maria Veiga-da-Cunha, Aline Vincent, Jérémie Rosain, Martin Castelle, Jill Serre, Laurent Renesme, Valérie Cormier-Daire, Takfarinas Kentache, Benjamin Fournier, Sophie Blesson, Nathalie Aladjidi, Despina Moshous, Mathieu Fusaro, Eulalie Lasseaux, Capucine Picard, Fanny Morice Picard, Nathalie Seta, Bénédicte Neven, Anne-Lise Delezoide, Catherine Fallet-Bianco, Emile Van Schaftingen
المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique
المصدر: Journal of clinical immunology, Vol. 41, no. 5, p. 958-966 (2021)
مصطلحات موضوعية: Male, 0301 basic medicine, Immunology, Limb Deformities, Congenital, macromolecular substances, Disease, Virus, N-Acetylphosphoglucosamine, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Immunology and Allergy, Missense mutation, Congenital disorders of glycosylation, Abnormalities, Multiple, Bone Diseases, Developmental, Severe combined immunodeficiency, Primary immunodeficiency, business.industry, Infant, Newborn, Infant, Phosphoglucomutase 3, medicine.disease, PGM3, 030104 developmental biology, Phosphoglucomutase, Dysplasia, Child, Preschool, Face, Skeletal dysplasia, Female, Severe Combined Immunodeficiency, Nervous System Diseases, business, Congenital disorder of glycosylation, 030215 immunology