日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency

针对878例疑似原发性免疫缺陷患者的靶向基因组测序与全外显子组测序的疗效和经济性比较

Platt, Craig D; Zaman, Fatima; Bainter, Wayne; Stafstrom, Kelsey; Almutairi, Abuarahman; Reigle, Margot; Weeks, Sabrina; Geha, Raif S; Chou, Janet

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

人类 ZNFX1 缺乏症可导致多系统炎症和病毒感染易感性

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klämbt, Verena; Soliman, Neveen A; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Häffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Buckley, Michael F; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias; Pachlopnik Schmid, Jana

Combined immunodeficiency in a patient with c-Rel deficiency.

c-Rel 缺陷患者合并免疫缺陷

Beaussant-Cohen Sarah, Jaber Faris, Massaad Michel J, Weeks Sabrina, Jones Jennifer, Alosaimi Mohammed F, Wallace Jacqueline, Al-Herz Waleed, Geha Raif S, Chou Janet