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Dupont, Annabelle; Soukaseum, Christelle; Cheptou, Mathilde; Adam, Frédéric; Nipoti, Thomas; Lourenco-Rodrigues, Marc-Damien; Legendre, Paulette; Proulle, Valérie; Rauch, Antoine; Kawecki, Charlotte; Bryckaert, Marijke; Rosa, Jean-Philippe; Paris, Camille; Ternisien, Catherine; Boisseau, Pierre; Goudemand, Jenny; Borgel, Delphine; Lasne, Dominique; Maurice, Pascal; Lenting, Peter J.; Denis, Cécile V.; Susen, Sophie; Kauskot, AlexandreRelevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidenceView onlineSchließen
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Published in: Haematologica, 104 (2019) 12, Seite 2493-2500
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Sorin, Boris; Iudici, Michele; Guerry, Mary-Jane; Samson, Maxime; Bielefeld, Philip; Maillet, Thibault; Nouvier, Mathilde; Karras, Alexandre; Meyer, Lara; Lavigne, Christian; Régent, Alexis; Durel, Cécile-Audrey; Fabre, Marc; Charles, Pierre; Raimbourg, Quentin; Lanteri, Aurélia; Pugnet, Grégory; Rivière, Frédéric; Pineton de Chambrun, Marc; Cacoub, Patrice; Le Guenno, Guillaume; Jourdain, Pierre; Mekinian, Arsène; Paule, Romain; [...]Induction failure in granulomatosis with polyangiitis: a nationwide case-control study of risk factors and outcomesView onlineSchließen
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Published in: Rheumatology, 62 (2023) 11, Seite 3662-3671
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Mahévas, Matthieu; Tran, Viet-Thi; Roumier, Mathilde; Chabrol, Amélie; Paule, Romain; Guillaud, Constance; Fois, Elena; Lepeule, Raphael; Szwebel, Tali-Anne; Lescure, François-Xavier; Schlemmer, Frédéric; Matignon, Marie; Khellaf, Mehdi; Crickx, Etienne; Terrier, Benjamin; Morbieu, Caroline; Legendre, Paul; Dang, Julien; Schoindre, Yoland; Pawlotsky, Jean-Michel; Michel, Marc; Perrodeau, Elodie; Carlier, Nicolas; Roche, Nicolas; [...]Clinical efficacy of hydroxychloroquine in patients with covid-19 pneumonia who require oxygen: observational comparative study using routine care dataView onlineSchließen
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Published in: BMJ (2020), Seite m1844
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Alby, Caroline; Piquand, Kevin; Huber, Céline; Megarbané, André; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechté; Abi-Tayeh, Georges; Bessières, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, László; Zombor, Melinda; Szabó, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Françoise; Munnich, Arnold; [...]Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeView onlineSchließen
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Published in: The American Journal of Human Genetics, 97 (2015) 2, Seite 311-318
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Alby, Caroline; Piquand, Kevin; Huber, Céline; Megarbané, André; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechté; Abi-Tayeh, Georges; Bessières, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, László; Zombor, Melinda; Szabó, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Françoise; Munnich, Arnold; [...]Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeView onlineSchließen
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Published in: The American Journal of Human Genetics, 97 (2015) 2, Seite 353
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Pujol, Claire; Legrand, Anne; Parodi, Livia; Thomas, Priscilla; Mochel, Fanny; Saracino, Dario; Coarelli, Giulia; Croon, Marijana; Popovic, Milica; Valet, Manon; Villain, Nicolas; Elshafie, Shahira; Issa, Mahmoud; Zuily, Stephane; Renaud, Mathilde; Marelli-Tosi, Cécilia; Legendre, Marine; Trimouille, Aurélien; Kemlin, Isabelle; Mathieu, Sophie; Gleeson, Joseph G.; Lamari, Foudil; Galatolo, Daniele; Alkouri, Rana; [...]Implication of folate deficiency in CYP2U1 loss of functionView onlineSchließen
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Published in: Journal of Experimental Medicine, 218 (2021) 11
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Tran Mau-Them, Frédéric; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Bruel, Ange-Line; Vitobello, Antonio; Garde, Aurore; Nambot, Sophie; Bourgon, Nicolas; Racine, Caroline; Sorlin, Arthur; Moutton, Sébastien; Marle, Nathalie; Rousseau, Thierry; Sagot, Paul; Simon, Emmanuel; Vincent-Delorme, Catherine; Boute, Odile; Colson, Cindy; Petit, Florence; Legendre, Marine; Naudion, Sophie; Rooryck, Caroline; Prouteau, Clément; [...]Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolView onlineSchließen
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Published in: Frontiers in Genetics, 14 (2023)
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Tran, Viet-Thi; Mahévas, Matthieu; Bani-Sadr, Firouze; Robineau, Olivier; Perpoint, Thomas; Perrodeau, Elodie; Gallay, Laure; Ravaud, Philippe; Goehringer, François; Lescure, François-Xavier; Lescure, François-Xavier; Tran, Viet-Thi; Mahévas, Matthieu; Bani-Sadr, Firouze; Robineau, Olivier; Perpoint, Thomas; Perrodeau, Elodie; Gallay, Laure; Ravaud, Philippe; Goehringer, François; Lescure, François-Xavier; Lescure, François-Xavier; Gallay, Laure; Mahévas, Matthieu; [...]Corticosteroids in patients hospitalized for COVID-19 pneumonia who require oxygen: observational comparative study using routine care dataView onlineSchließen
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Published in: Clinical Microbiology and Infection, 27 (2021) 4, Seite 603-610
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Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; [...]Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaView onlineSchließen
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Published in: Journal of Medical Genetics, 59 (2022) 6, Seite 559-567
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Messiaen, Claude; Racine, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attié-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Slama, Lilia Ben; Landais, Paul; Leheup, Bruno; Doco-Fenzy, Martine; Poirsier, Céline; Spodenkiewicz, Marta; [...]10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in FranceView onlineSchließen
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Published in: Orphanet Journal of Rare Diseases, 16 (2021) 1
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Caputo, Sandrine M.; Golmard, Lisa; Léone, Mélanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Françoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noémie; Schwartz, Mathias; Vilquin, Paul; Garrec, Celine; Privat, Maud; Gay-Bellile, Mathilde; Abadie, Caroline; Abidallah, Khadija; Airaud, Fabrice; Allary, Anne-Sophie; Barouk-Simonet, Emmanuelle; Belotti, Muriel; Benigni, Charlotte; Benusiglio, Patrick R.; Berthemin, Christelle; [...]Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachView onlineSchließen
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Published in: The American Journal of Human Genetics, 108 (2021) 10, Seite 1907-1923
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Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; [...]Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19View onlineSchließen
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Published in: Genome Medicine, 16 (2024) 1
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Siempos, Ilias I.; Kalil, Andre C.; Belhadi, Drifa; Veiga, Viviane Cordeiro; Cavalcanti, Alexandre Biasi; Branch-Elliman, Westyn; Papoutsi, Eleni; Gkirgkiris, Konstantinos; Xixi, Nikoleta A.; Kotanidou, Anastasia; Hermine, Olivier; Porcher, Raphaël; Mariette, Xavier; Hermine, Olivier; Mariette, Xavier; Ravaud, Philippe; Bureau, Serge; Dougados, Maxime; Resche-Rigon, Matthieu; Tharaux, Pierre-Louis; Tibi, Annick; Hermine, Olivier; Azoulay, Elie; Bureau, Serge; [...]Immunomodulators for immunocompromised patients hospitalized for COVID-19: a meta-analysis of randomized controlled trialsView onlineSchließen
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Published in: eClinicalMedicine, 69 (2024), Seite 102472
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Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Abou Tayoun, Ahmad; Aiuti, Alessandro; Alavi Darazam, Ilad; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; [...]Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19View onlineSchließen
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Published in: Genome Medicine, 15 (2023) 1