8696 Whole Exome Sequence Analysis in a Naïve Cohort of Congenital Hypopituitarism in a Single Center
单中心先天性垂体功能减退症初治患者队列的8696例全外显子组测序分析
期刊:BMJ Case Reports
影响因子:0.5
doi:10.1136/bcr-2022-253571
Hong, Joshua Sungho; Lockie, Elizabeth; George, Sam; Prete, Alessandro; Theiler-Schwetz, Verena; Arlt, Wiebke; Oana Chifu, Irina; Harbeck, Birgit; Napier, Catherine; Newell-Price, John D C; Rees, Aled; Reisch, Nicole; Karl Stalla, Gunter; Aslam, Naila; Coope, Helen; Maltby, Kerry; Porter, John; Quirke, Jo; Ross, Richard John M; Prete, Alessandro; Theiler-Schwetz, Verena; Arlt, Wiebke; Oana Chifu, Irina; Harbeck, Birgit; Napier, Catherine; Newell-Price, John D C; Rees, Aled; Reisch, Nicole; Karl Stalla, Gunter; Aslam, Naila; Coope, Helen; Maltby, Kerry; Porter, John; Quirke, Jo; M Ross, Richard John; Fleseriu, Maria; Samson, Susan Leanne; Biermasz, Nienke; Strasburger, Christian Joseph; Orenbach, Shir Fuchs; Crompton, Jason A; Melmed, Shlomo; Remba-Shapiro, Ilan; Schweizer, Júnia R O L; Liebert, Karen J P; Schilbach, Katharina; Adams, Michelle; Tritos, Nicholas A; Bidlingmaier, Martin; Nachtigall, Lisa B; Cassorla, F; Roman, R; Johnson, M L; Avila, A; Iñiguez, G; Baier, I; Said, D; Bruchey, A; Smith, C; Brincks, E; McKew, J; Thorner, M O; Pitukcheewanont, P; He, W; Schafer, E C; Brauner, R; Delaney, A; Dunkel, L; Grinspon, R; Hall, J E; Hirschhorn, J N; Howard, S; Latronico, A; Jorge, A A; McElreavey, K; Mericq, V; Merino, P M; Palmert, M R; Rey, R A; Rezende, R C; Seminara, S B; Shaw, N; Delayed Puberty Genetics Consortium, T; Chan, Y M; Ferone, D; Spencer-Segal, J L; Fidan Yaylali, G; Doknic, M; Isaeva, E; Dreval, A; Gilis-Januszewska, A; Gezer, E; Bancos, I; Katznelson, L; Harrie, M; Svedberg, A; Pedroncelli, A M; Tiberg, F; Mehta, S; Havranek, K L; Pacione, D; Yuen, K; Zhang, L; Little, A; Karsy, M; Evans, J J; Kim, W; Benjamin, C; Gardner, P A; Fernandez-Miranda, J C; Zada, G; Rennert, R; Silverstein, J M; Kshettry, V; Chicoine, M; Shih, R; Salcedo, J; Agrawal, N; He, W; Schafer, E C; Brauner, R; Delaney, A; Dunkel, L; Grinspon, R; Hall, J E; Hirschhorn, J N; Howard, S; Latronico, A; Jorge, A A; McElreavey, K; Mericq, V; Merino, P M; Palmert, M R; Rey, R A; Rezende, R C; Seminara, S B; Shaw, N; Delayed Puberty Genetics Consortium, T; Chan, Y M; Gadelha, M; Randeva, H S; Gordon, M B; Doknic, M; Mezosi, E; Toth, M; Boguszewski, C L; Davidson, C; Ferrara-Cook, C T; Casagrande, A; Krasner, A; Alimussina, Malika; Bryce, Jillian; Chen, Minglu; Koley, Sanhita; Al-Agha, Abdulmoein; Amin, Nadia; Atapattu, Navoda; Chen, Jiajia; Deyanova, Yana; Fu, Antony; Gong, Chunxiu; Iotova, Violeta; Janus, Dominika; Jorge, Alexander; Markosyan, Renata; Seneviratne, Sumudu; Guftar Shaikh, M; Shenoy, Savitha; Shepherd, Sheila; Tack, Lloyd; Wasniewska, Malgorzata; Chen, Suet Ching; Faisal Ahmed, S; Aratani, Fernanda Queiroz; Di Matteo, Debora Parreiras; de Magalhães, Isabelle Pinheiro Amaro; Frudit, Paula; Motomia, Lucas Shuiti; Beeby, Stephanie Kallas; Barros, Luciana Rodrigues Carvalho; Bissegatto, Débora Delmonte; Carvalho, Luciani Renata Silveira
