1. "Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france". Issue 2 (15th February 2021) Authors: Lacout, Carole; Savey, Léa; Bourguiba, Rim; Giurgea, Irina; Amselem, Serge; Hoyeau, Nadia; Galland, Joris; Amiot, Xavier; Grateau, Gilles; Ducharme‐Bénard, Stéphanie; Georgin‐Lavialle, Sophie Journal: Helicobacter Issue: Volume 26:Issue 2(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Absence of NLRP3 somatic mutations and VEXAS‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome. Issue 11 (25th June 2022) Authors: Louvrier, Camille; Awad, Fawaz; Amselem, Serge; Lipsker, Dan; Giurgea, Irina Journal: Allergy Issue: Volume 77:Issue 11(2022) Page Start: 3435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood. Issue 3 (22nd July 2019) Authors: Manali, Effrosyni D.; Legendre, Marie; Nathan, Nadia; Kannengiesser, Caroline; Coulomb-L'Hermine, Aurore; Tsiligiannis, Theofanis; Tomos, Pericles; Griese, Matthias; Borie, Raphael; Clement, Annick; Amselem, Serge; Crestani, Bruno; Papiris, Spyros A. Journal: ERJ open research Issue: Volume 5:Issue 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biomarkers in Interstitial lung diseases. (September 2015) Authors: Nathan, Nadia; Corvol, Harriet; Amselem, Serge; Clement, Annick Journal: Paediatric respiratory reviews Issue: Volume 16:Isue 4(2015) Page Start: 219 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders. Issue 9 (September 2014) Authors: Jéru, Isabelle; Cochet, Emmanuelle; Duquesnoy, Philippe; Hentgen, Véronique; Copin, Bruno; Mitjavila‐Garcia, Maria Teresa; Sheykholeslami, Shayan; Le Borgne, Gaëlle; Dastot‐Le Moal, Florence; Malan, Valérie; Karabina, Sonia; Mahevas, Mathieu; Chantot‐Bastaraud, Sandra; Lecron, Jean‐Claude; Faivre... Journal: Arthritis & rheumatology Issue: Volume 66:Issue 9(2014) Page Start: 2621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of SLC26A9 in Patients with CF‐Like Lung Disease. Issue 10 (13th August 2013) Authors: Bakouh, Naziha; Bienvenu, Thierry; Thomas, Annick; Ehrenfeld, Jordi; Liote, Huguette; Roussel, Delphine; Duquesnoy, Philippe; Farman, Nicolette; Viel, Marion; Cherif‐Zahar, Baya; Amselem, Serge; Taam, Rola Abou; Edelman, Aleksander; Planelles, Gabrielle; Sermet‐Gaudelus, Isabelle Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency. (8th June 2021) Authors: Deshayes, Samuel; Bazille, Céline; El Khouri, Elma; Kone‐Paut, Isabelle; Giurgea, Irina; Georgin‐Lavialle, Sophie; Martin Silva, Nicolas; Dumont, Anaël; Ollivier, Isabelle; Amselem, Serge; de Boysson, Hubert; Aouba, Achille Journal: Liver international Issue: Volume 41:Number 8(2021) Page Start: 1894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol. Issue 8 (30th August 2018) Authors: Lorenzon, Roberta; Mariotti-Ferrandiz, Encarnita; Aheng, Caroline; Ribet, Claire; Toumi, Ferial; Pitoiset, Fabien; Chaara, Wahiba; Derian, Nicolas; Johanet, Catherine; Drakos, Iannis; Harris, Sophie; Amselem, Serge; Berenbaum, Francis; Benveniste, Olivier; Bodaghi, Bahram; Cacoub, Patrice; Gratea... Journal: BMJ open Issue: Volume 8:Issue 8(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Issue 11 (6th August 2019) Authors: Cohen, Enzo; Belkacem, Sabrina; Fedala, Soumeya; Collot, Nathalie; Khallouf, Eliane; Dastot, Florence; Polak, Michel; Duquesnoy, Philippe; Brioude, Frederic; Rose, Sophie; Viot, Géraldine; Soleyan, Aude; Carel, Jean‐Claude; Sobrier, Marie‐Laure; Chanson, Philippe; Gatelais, Frédérique; Heinrichs,... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2033 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder. Issue 3 (28th December 2022) Authors: Louvrier, Camille; El Khouri, Elma; Grall Lerosey, Martine; Quartier, Pierre; Guerrot, Anne‐Marie; Bader Meunier, Brigitte; Chican, Julie; Mohammad, Malaïka; Assrawi, Eman; Daskalopoulou, Aphrodite; Arenas Garcia, Angela; Copin, Bruno; Piterboth, William; Dastot Le Moal, Florence; Karabina, Sonia... Journal: Arthritis & rheumatology Issue: Volume 75:Issue 3(2023) Page Start: 468 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗