A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

Autor Hoyos-Bachiloglu, Rodrigo, Chou, Janet, Sodroski, Catherine N., Beano, Abdallah, Bainter, Wayne, Angelova, Magdalena, Al Idrissi, Eman, Habazi, Murad K., Alghamdi, Hamza Ali, Almanjomi, Fahd, Al Shehri, Mohamed, Elsidig, Nagi, Alaa Eldin, Morsi, Knipe, David M., AlZahrani, Mofareh, Geha, Raif S.
Vydáno v J Clin Invest (2017)

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Autor 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
Vydáno v Genome Med (2019)