New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

por Allegrini, B., Jedele, S., David Nguyen, L., Mignotet, M., Rapetti-Mauss, R., Etchebest, C., Fenneteau, O., Loubat, A., Boutet, A., Thomas, C., Durin, J., Petit, A., Badens, C., Garçon, L., Da Costa, L., Guizouarn, H.
Publicado 2022

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

por Mosbah, H., Donadille, B., Vatier, C., Janmaat, S., Atlan, M., Badens, C., Barat, P., Béliard, S., Beltrand, J., Ben Yaou, R., Bismuth, E., Boccara, F., Cariou, B., Chaouat, M., Charriot, G., Christin-Maitre, S., De Kerdanet, M., Delemer, B., Disse, E., Dubois, N., Eymard, B., Fève, B., Lascols, O., Mathurin, P., Nobécourt, E., Poujol-Robert, A., Prevost, G., Richard, P., Sellam, J., Tauveron, I., Treboz, D., Vergès, B., Vermot-Desroches, V., Wahbi, K., Jéru, I., Vantyghem, M. C., Vigouroux, C.
Publicado 2022

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

por Coralea Stephanou, C, Petros Kountouris, P, Carsten W Lederer, C, Celeste Bento, C, Cornelis L Hartveld, C, Jan Traeger-Synodinos, J, John S Waye, J, Zhiyu Peng, Z, Irene Fylaktou, I, Hashim Halim-Fikri, H, Tamara T. Koopmann, T, Landry Nfonsam, L, Jun Sun, J, Franck Nzengu-Lukusa, F, Michael Angastiniotis, M, Catherine Badens, C, Bertha Ibarra Cortes, B, Johan T. den Dunnen, J, Jacques Elion, J, Suthat Fucharoen, S, Kyriaki Michailidou, K, Thessalia Papasavva, T, Antonio Piga, A, Raj Ramesar, R, Swee Lay Thein, S, Léon Tshilolo, L, Zilfalil Bin Alwi, Z, Marina Kleanthous, M
Publicado 2022