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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

by Stray-Pedersen, Asbjørg, MD, PhD, Sorte, Hanne Sørmo, MS, Samarakoon, Pubudu, MS, Gambin, Tomasz, PhD, Chinn, Ivan K., MD, Coban Akdemir, Zeynep H., PhD, Erichsen, Hans Christian, MD, PhD, Forbes, Lisa R., MD, Gu, Shen, PhD, Yuan, Bo, PhD, Jhangiani, Shalini N., MS, Muzny, Donna M., MS, Rødningen, Olaug Kristin, PhD, Sheng, Ying, PhD, Nicholas, Sarah K., MD, PhD, Noroski, Lenora M., MD, MPH, Seeborg, Filiz O., MD, MPH, Davis, Carla M., MD, Canter, Debra L., MS, Mace, Emily M., PhD, Vece, Timothy J., MD, Allen, Carl E., MD, PhD, Abhyankar, Harshal A., MS, Boone, Philip M., MD, PhD, Beck, Christine R., PhD, Wiszniewski, Wojciech, MD, PhD, Fevang, Børre, MD, PhD, Aukrust, Pål, MD, PhD, Tjønnfjord, Geir E., MD, PhD, Gedde-Dahl, Tobias, MD, PhD, Hjorth-Hansen, Henrik, MD, PhD, Dybedal, Ingunn, MD, PhD, Nordøy, Ingvild, MD, PhD, Jørgensen, Silje F., MD, Abrahamsen, Tore G., MD, PhD, Øverland, Torstein, MD, Bechensteen, Anne Grete, MD, PhD, Skogen, Vegard, MD, PhD, Osnes, Liv T.N., MD, PhD, Kulseth, Mari Ann, PhD, Prescott, Trine E., MD, Rustad, Cecilie F., MD, Heimdal, Ketil R., MD, PhD, Belmont, John W., MD, PhD, Rider, Nicholas L., DO, Chinen, Javier, MD, PhD, Cao, Tram N., MS, Smith, Eric A., BSc, Caldirola, Maria Soledad, BSc, Bezrodnik, Liliana, MD, Lugo Reyes, Saul Oswaldo, MD, Espinosa Rosales, Francisco J., MD, Guerrero-Cursaru, Nina Denisse, BSc, Pedroza, Luis Alberto, PhD, Poli, Cecilia M., MD, Franco, Jose L., MD, PhD, Trujillo Vargas, Claudia M., PhD, Aldave Becerra, Juan Carlos, MD, Wright, Nicola, MD, Issekutz, Thomas B., MD, Issekutz, Andrew C., MD, Abbott, Jordan, MD, Caldwell, Jason W., DO, Bayer, Diana K., DO, Chan, Alice Y., MD, PhD, Aiuti, Alessandro, MD, PhD, Cancrini, Caterina, MD, PhD, Holmberg, Eva, MD, West, Christina, MD, PhD, Burstedt, Magnus, MD, PhD, Karaca, Ender, MD, Yesil, Gözde, MD, Artac, Hasibe, MD, Bayram, Yavuz, MD, Atik, Mehmed Musa, BSc, Eldomery, Mohammad K., MD, Ehlayel, Mohammad S., MD, PhD, Jolles, Stephen, MD, PhD, Flatø, Berit, MD, PhD, Bertuch, Alison A., MD, PhD, Hanson, I. Celine, MD, Zhang, Victor W., PhD, Wong, Lee-Jun, PhD, Hu, Jianhong, PhD, Walkiewicz, Magdalena, PhD, Yang, Yaping, PhD, Eng, Christine M., MD, Boerwinkle, Eric, PhD, Gibbs, Richard A., PhD, Shearer, William T., MD, PhD, Lyle, Robert, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (Hon)
Published in Journal of allergy and clinical immunology (01.01.2017)

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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

by de Beaucoudrey, Ludovic, Samarina, Arina, Bustamante, Jacinta, Cobat, Aurélie, Boisson-Dupuis, Stéphanie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Jannière, Lucile, Rose, Yoann, de Suremain, Maylis, Filipe-Santos, Orchidée, Chapgier, Ariane, Picard, Capucine, Dogu, Figen, Ikinciogullari, Aydan, Tanir, Gonul, Al-Hajjar, Sami, Frayha, Husn H, AlSum, Zobaida, Al-Ajaji, Sulaiman, Alangari, Abdullah, Al-Ghonaium, Abdulaziz, Adimi, Parisa, Mansouri, Davood, Ben-Mustapha, Imen, Yancoski, Judith, Garty, Ben-Zion, Rodriguez-Gallego, Carlos, Caragol, Isabel, Kumararatne, Dinakantha S, Patel, Smita, Doffinger, Rainer, Jeppsson, Olle, Reichenbach, Janine, Nadal, David, Boyko, Yaryna, Pietrucha, Barbara, Anderson, Suzanne, Levin, Michael, Schandené, Liliane, Schepers, Kinda, Efira, André, Mascart, Françoise, Matsuoka, Masao, Siegrist, Claire-Anne, Frecerova, Klara, Blüetters-Sawatzki, Renate, Freihorst, Joachim, Baumann, Ulrich, Richter, Darko, Haerynck, Filomeen, Novelli, Vas, Lammas, David, Vermylen, Christiane, Tuerlinckx, David, Haas, Walther H, Fleckenstein, Bernhard, Levy, Jacob, Raj, Revathi, Cohen, Aileen Cleary, Lewis, David B, Holland, Steven M, Jiang, Liping, Yang, Xiqiang, Xie, Yuanyuan, Lee, Pamela Pui Wah, Chan, Koon Wing, Chen, Tong-Xin, Castro, Gabriela, Natera, Ivelisse, Codoceo, Ana, King, Alejandra, Bezrodnik, Liliana, Gaillard, Maria Isabel, da Silva Duarte, Alberto Jose, Aldana, Ruth, Espinosa-Rosales, Francisco Javier, Bousfiha, Ahmed Aziz, Baghdadi, Jamila El, Aksu, Guzide, Keser, Melike, Somer, Ayper, Hatipoglu, Nevin, Aydogmus, Çigdem, Asilsoy, Suna, Camcioglu, Yildiz, Gülle, Saniye, Ozgur, Tuba T, Ozen, Meteran, Oleastro, Matias, Bernasconi, Andrea, Mamishi, Setareh, Parvaneh, Nima, Rosenzweig, Sergio, Barbouche, Ridha, Pedraza, Sigifredo, Lau, Yu Lung, Ehlayel, Mohammad S, Fieschi, Claire, Casanova, Jean-Laurent
Published in Medicine (Baltimore) (01.11.2010)

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