The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014
Marschall, K., Hoernes, M., Bitzenhofer‐Grüber, M., Jandus, P., Duppenthaler, A., Wuillemin, W. A., Rischewski, J., Boyman, O., Heininger, U., Hauser, T., Steiner, U., Posfay‐Barbe, K., Seebach, J., Recher, M., Hess, C., Helbling, A., Reichenbach, J.
Published in Clinical and experimental immunology (01.10.2015)
Published in Clinical and experimental immunology (01.10.2015)
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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
Marquardt, L., Lacour, M., Hoernes, M., Opitz, L., Lecca, R., Volkmer, B., Reichenbach, J., Hohl, D., Ansari, M., Ozsahin, H., Güngör, T., Pachlopnik Schmid, J.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
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Journal Article
Unusual dermatological presentation and immune phenotype in SCID due to an IL 7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
Marquardt, L., Lacour, M., Hoernes, M., Opitz, L., Lecca, R., Volkmer, B., Reichenbach, J., Hohl, D., Ansari, M., Ozsahin, H., Güngör, T., Pachlopnik Schmid, J.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
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The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database
Schatorjé, E. J. H., Gathmann, B., Hout, R. W. N. M., Vries, E., Alsina, L, Baumann, U, Belohradsky, BH, Bienemann, K, Boardman, B, Borte, M, Bredius, RG, Brodszki, N, Caracseghi, F, Ciznar, P, Vries, E, Driessen, GJ, Dückers, G, Duppenthaler, A, Farmaki, E, Galal, N, Gennery, A, Gonzalez‐Granado, LI, Hlavackova, E, Hoernes, M, Kilic, SS, Krüger, R, Kuijpers, TW, Kütükcüler, N, Llobet, P, Marques, L, Montfrans, JM, Papadopoulou‐Alataki, E, Paschenko, O, Pasic, S, Pietrogrande, MC, Pignata, C, Reda, SM, Reisli, I, Roesler, J, Santos, JL, Schölvinck, EH, Schulze, Ilka, Seidel, MG, Shcherbina, A, Sundin, M, Szaflarska, A, Velbri, S, Warnatz, K, Warris, A
Published in Clinical and experimental immunology (01.06.2014)
Published in Clinical and experimental immunology (01.06.2014)
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Sediva, A, Forster-Waldl, E, Meyets, I, Mulaosmanovic, V, Naumova, E, Keletic, J, Litzman, J, Velbri, S, Seppanen, M, Oksenhendler, E, Warnatz, K, Kanariou, M, Marodi, L, Keogan, M, Quinti, I, Prokofjeva, T, Duobiene, R, Hentges, F, deVries, E, Pac, M, da Silva, SL, Bataneant, M, Ciznar, P, Avcin, T, Espanol, T, Gardulf, A, Chapel, H, Belevtsev, M, Mironska, K, Shcherbina, A, Koruga, D, Hoernes, M, Reisli, I
Published in JOURNAL OF CLINICAL IMMUNOLOGY (2014)
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Published in JOURNAL OF CLINICAL IMMUNOLOGY (2014)
Conference Proceeding
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening
Marquardt, L, Lacour, M, Hoernes, M, Opitz, L, Lecca, R, Volkmer, B, Reichenbach, J, Hohl, D, Ansari, M, Ozsahin, H, Güngör, T, Pachlopnik Schmid, J
Published in Journal of the European Academy of Dermatology and Venereology : JEADV (01.03.2017)
Published in Journal of the European Academy of Dermatology and Venereology : JEADV (01.03.2017)
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