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Guillaume Sarrabay
INSERM - Paris / France
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AD Scientific Index ID: 4422325
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Guillaume Sarrabay's MOST POPULAR ARTICLES
1-)
Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patientsS Georgin‐Lavialle, B Terrier, AF Guedon, M Heiblig, T Comont, E Lazaro, ...British Journal of Dermatology 186 (3), 564-574, 20222262022
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A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)S Grandemange, E Sanchez, P Louis-Plence, FT Mau-Them, D Bessis, ...Annals of the rheumatic diseases 76 (7), 1191-1198, 20172222017
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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2N Bögershausen, V Gatinois, V Riehmer, H Kayserili, J Becker, ...Human mutation 37 (9), 847-864, 20161512016
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory …ME Van Gijn, I Ceccherini, Y Shinar, EC Carbo, M Slofstra, JI Arostegui, ...Journal of medical genetics 55 (8), 530-537, 20181502018
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Mutation Update for COL2A1 Gene Variants Associated with Type II CollagenopathiesM Barat‐Houari, G Sarrabay, V Gatinois, A Fabre, B Dumont, ...Human Mutation 37 (1), 7-15, 20161352016
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