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Orphanet Journal of Rare Diseases|October 13, 2012
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot studyJean-François Papon, Laurence Bassinet, Gwenaëlle Cariou-Patron, et al.
The British Journal of Dermatology|June 10, 2025
Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implicationsAphrodite Daskalopoulou, Eman Assrawi, Farah Diab, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptorMichael P Wajnrajch, Joseph M Gertner, Alisa S Sokoloff, et al.
ERJ Open Research|July 31, 2019
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthoodEffrosyni D Manali, Marie Legendre, Nadia Nathan, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 9, 2021
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiencySamuel Deshayes, Céline Bazille, Elma El Khouri, et al.
Plos One|April 14, 2017
Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activationFawaz Awad, Eman Assrawi, Claire Jumeau, et al.
Plos One|July 30, 2013
Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disordersIsabelle Jéru, Serge Charmion, Emmanuelle Cochet, et al.
Human Molecular Genetics|November 28, 2015
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHDMarie-Laure Sobrier, Yu-Cheng Tsai, Christelle Pérez, et al.
Joint Bone Spine|May 31, 2016
Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patientsSalam Abbara, Sophie Georgin-Lavialle, Katia Stankovic Stojanovic, et al.
Multiple Sclerosis and Related Disorders|February 20, 2021
Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature reviewInès Elhani, Anael Dumont, Hélène Vergneault, et al.
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