Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
外显子组测序在常规诊断中的应用：一项针对254名原发性免疫缺陷患者的通用检测
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-019-0649-3
Arts, Peer; Simons, Annet; AlZahrani, Mofareh S; Yilmaz, Elanur; AlIdrissi, Eman; van Aerde, Koen J; Alenezi, Njood; AlGhamdi, Hamza A; AlJubab, Hadeel A; Al-Hussaini, Abdulrahman A; AlManjomi, Fahad; Alsaad, Alaa B; Alsaleem, Badr; Andijani, Abdulrahman A; Asery, Ali; Ballourah, Walid; Bleeker-Rovers, Chantal P; van Deuren, Marcel; van der Flier, Michiel; Gerkes, Erica H; Gilissen, Christian; Habazi, Murad K; Hehir-Kwa, Jayne Y; Henriet, Stefanie S; Hoppenreijs, Esther P; Hortillosa, Sarah; Kerkhofs, Chantal H; Keski-Filppula, Riikka; Lelieveld, Stefan H; Lone, Khurram; MacKenzie, Marius A; Mensenkamp, Arjen R; Moilanen, Jukka; Nelen, Marcel; Ten Oever, Jaap; Potjewijd, Judith; van Paassen, Pieter; Schuurs-Hoeijmakers, Janneke H M; Simon, Anna; Stokowy, Tomasz; van de Vorst, Maartje; Vreeburg, Maaike; Wagner, Anja; van Well, Gijs T J; Zafeiropoulou, Dimitra; Zonneveld-Huijssoon, Evelien; Veltman, Joris A; van Zelst-Stams, Wendy A G; Faqeih, Eissa A; van de Veerdonk, Frank L; Netea, Mihai G; Hoischen, Alexander
