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Number of items: 3.

Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; et al (2016). Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood, 127(25):3154-3164.

Lemoine, Roxane; Pachlopnik Schmid, Jana; Farin, Henner F; Bigorgne, Amélie; Debré, Marianne; Sepulveda, Fernando; Héritier, Sébastien; Lemale, Julie; Talbotec, Cécile; Rieux-Laucat, Frédéric; Ruemmele, Frank; Morali, Alain; Cathebras, Pascal; Nitschke, Patrick; Bole-Feysot, Christine; Blanche, Stéphane; Brousse, Nicole; Picard, Capucine; Clevers, Hans; Fischer, Alain; de Saint Basile, Geneviève (2014). Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. Journal of Allergy and Clinical Immunology, 134(6):1354-1364.e6.

Fernandes, Juliana F; Rocha, Vanderson; Labopin, Myriam; Neven, Benedicte; Moshous, Despina; Gennery, Andrew R; Friedrich, Wilhelm; Porta, Fulvio; Diaz de Heredia, Cristina; Wall, Donna; Bertrand, Yves; Veys, Paul; Slatter, Mary; Schulz, Ansgar; Chan, Ka Wah; Grimley, Michael; Ayas, Mouhab; Güngör, Tayfun; Ebell, Wolfram; Bonfim, Carmem; Kalwak, Krzysztof; Taupin, Pierre; Blanche, Stéphane; Gaspar, H Bobby; Landais, Paul; Fischer, Alain; Gluckman, Eliane; Cavazzana-Calvo, Marina (2012). Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? Blood, 119(12):2949-2955.

This list was generated on Fri May 24 15:11:24 2019 CEST.