未登录.png)
分享.png)
收藏Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination
Sokal, Aurelien; Bastard, Paul; Chappert, Pascal; Barba-Spaeth, Giovanna; Fourati, Slim; Vanderberghe, Alexis; Lagouge-Roussey, Pauline; Meyts, Isabelle; Gervais, Adrian; Bouvier-Alias, Magali; Azzaoui, Imane; Fernandez, Ignacio; de la Selle, Andrea; Zhang, Qian; Bizien, Lucy; Pellier, Isabelle; Linglart, Agnes; Rothenbuhler, Anya; Marcoux, Estelle; Anxionnat, Raphael; Cheikh, Nathalie; Leger, Juliane; Amador-Borrero, Blanca; Fouyssac, Fanny; Menut, Vanessa; Goffard, Jean-Christophe; Storey, Caroline; Demily, Caroline; Mallebranche, Coralie; Troya, Jesus; Pujol, Aurora; Zins, Marie; Tiberghien, Pierre; Gray, Paul E.; McNaughton, Peter; Sullivan, Anna; Peake, Jane; Levy, Romain; Languille, Laetitia; Rodiguez-Gallego, Carlos; Boisson, Bertrand; Gallien, Sebastien; Neven, Benedicte; Michel, Marc; Godeau, Bertrand; Abel, Laurent; Rey, Felix A.; Weill, Jean-Claude; Reynaud, Claude-Agnes; Tangye, Stuart G.; Casanova, Jean-Laurent; Mahevas, Matthieu 分享 收藏 Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder DiseaseMeaux, Marie-Noelle; Harambat, Jerome; Rothenbuhler, Anya; Leger, Juliane; Kamenicky, Peter; Soskin, Sylvie; Boyer, Olivia; Boros, Emese; D'Anella, Pascal; Mignot, Brigitte; Gebhart, Maite; Vic, Philippe; Richard, Nicolas; Thivichon-Prince, Beatrice; Francou, Bruno; Linglart, Agnes; Bacchetta, Justine; Molin, Arnaud 分享 收藏 Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)Fiot, Elodie; Alauze, Bertille; Donadille, Bruno; Samara-Boustani, Dinane; Houang, Muriel; De Filippo, Gianpaolo; Bachelot, Anne; Delcour, Clemence; Beyler, Constance; Bois, Emilie; Bourrat, Emmanuelle; Quoc, Emmanuel Bui; Bourcigaux, Nathalie; Chaussain, Catherine; Cohen, Ariel; Cohen-Solal, Martine; Da Costa, Sabrina; Dossier, Claire; Ederhy, Stephane; Elmaleh, Monique; Iserin, Laurence; Lengline, Helene; Poujol-Robert, Armelle; Roulot, Dominique; Viala, Jerome; Albarel, Frederique; Bismuth, Elise; Bernard, Valerie; Bouvattier, Claire; Brac, Aude; Bretones, Patricia; Chabbert-Buffet, Nathalie; Chanson, Philippe; Coutant, Regis; de Warren, Marguerite; Demaret, Beatrice; Duranteau, Lise; Eustache, Florence; Gautheret, Lydie; Gelwane, Georges; Gourbesville, Claire; Grynberg, Mickael; Gueniche, Karinne; Jorgensen, Carina; Kerlan, Veronique; Lebrun, Charlotte; Lefevre, Christine; Lorenzini, Francoise; Manouvrier, Sylvie; Pienkowski, Catherine; Reynaud, Rachel; Reznik, Yves; Siffroi, Jean-Pierre; Tabet, Anne-Claude; Tauber, Maithe; Vautier, Vanessa; Tauveron, Igor; Wambre, Sebastien; Zenaty, Delphine; Netchine, Irene; Polak, Michel; Touraine, Philippe; Carel, Jean-Claude; Christin-Maitre, Sophie; Leger, Juliane 分享 收藏 分享 收藏 分享 收藏 Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseasesKallali, Wafa; Messiaen, Claude; Saidi, Roumaisah; Lessim, Soucounda; Viaud, Magali; Dulon, Jerome; Nedelcu, Mariana; Samara, Dinane; Houang, Muriel; Donadille, Bruno; Courtillot, Carine; de Filippo, GianPaolo; Carel, Jean-Claude; Christin-Maitre, Sophie; Touraine, Philippe; Netchine, Irene; Polak, Michel; Leger, Juliane 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidismBenlarbi, Hassina; Simon, Dominique; Rosenblatt, Jonathan; Dumaine, Cecile; de Roux, Nicolas; Chevenne, Didier; Storey, Caroline; Poidvin, Amelie; Martinerie, Laetitia; Carel, Jean-Claude; Leger, Juliane 分享 收藏 Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinologyvan Trotsenburg, Paul; Stoupa, Athanasia; Leger, Juliane; Rohrer, Tilman; Peters, Catherine; Fugazzola, Laura; Cassio, Alessandra; Heinrichs, Claudine; Beauloye, Veronique; Pohlenz, Joachim; Rodien, Patrice; Coutant, Regis; Szinnai, Gabor; Murray, Philip; Bartes, Beate; Luton, Dominique; Salerno, Mariacarolina; de Sanctis, Luisa; Vigone, Mariacristina; Krude, Heiko; Persani, Luca; Polak, Michel 分享 收藏 分享 收藏 Abnormal bone mineral density and content in girls with early-onset anorexia nervosa早发性神经性厌食症女孩的骨矿物质密度和含量异常Clarke, Julia; Peyre, Hugo; Alison, Marianne; Bargiacchi, Anne; Stordeur, Coline; Boizeau, Priscilla; Mamou, Gregor; Crepon, Sophie Guilmin; Alberti, Corinne; Leger, Juliane; Delorme, Richard 分享 收藏 SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axisSRY阴性46，XX睾丸/卵睾丸DSD: 长期结果和促性腺激素轴的早期阻断Lambert, Sophie; Peycelon, Matthieu; Samara-Boustani, Dinane; Hyon, Capucine; Dumeige, Laurence; Peuchmaur, Michel; Fiot, Elodie; Leger, Juliane; Simon, Dominique; Paye-Jaouen, Annabel; Bouligand, Jerome; Siffroi, Jean-Pierre; Carel, Jean-Claude; McElreavey, Ken; El Ghoneimi, Alaa; Brachet, Cecile; Bouvattier, Claire; Martinerie, Laetitia 分享 收藏 分享 收藏 分享 收藏 Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeMcElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu 分享 收藏 X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthoodFiot, Elodie; Zenaty, Delphine; Boizeau, Priscilla; Haignere, Jeremie; Dos Santos, Sophie; Leger, Juliane; Carel, J. C.; Cabrol, S.; Chanson, P.; Christin-Maitre, S.; Courtillot, C.; Donadille, B.; Dulon, J.; Houang, M.; Nedelcu, M.; Netchine, I; Polak, M.; Salenave, S.; Samara-Boustani, D.; Simon, D.; Touraine, P.; Viaud, M.; Bony, H.; Braun, K.; Desailloud, R.; Bertrand, A. M.; Mignot, B.; Schillo, F.; Barat, P.; Kerlan, V; Metz, C.; Sonnet, E.; Reznik, Y.; Ribault, V; Carla, H.; Tauveron, I; Bensignor, C.; Huet, F.; Verges, B.; Chabre, O.; Dupuis, C.; Spiteri, A.; Cartigny, M.; Stuckens, C.; Weill, J.; Lienhardt, A.; Naud-Saudreau, C.; Borson-Chazot, F.; de la Perriere, A. Brac; Pugeat, M.; Brue, T.; Reynaud, R.; Simonin, G.; Paris, F.; Sultan, C.; Leheup, B.; Weryha, G.; Baron, S.; Charbonnel, B.; Dubourdieu, S.; Baechler, E.; Fenichel, P.; Wagner, K.; Compain, F.; Crosnier, H.; Personnier, C.; Delemer, B.; Hecart, A. C.; Souchon, P. F.; De Kerdanet, M.; Galland, F.; Nivot-Adamiak, S.; Castanet, M.; Lecointre, C.; Richard, O.; Jeandidier, N.; Soskin, S.; Lecomte, P.; Pepin-Donat, M.; Pierre, P. 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
