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Number of items: 10.

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 (2017). 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. Journal of the European Academy of Dermatology and Venerology, 31(3):e147-e148.

Hoernes, M; Pachlopnik Schmid, J; Schmid, J (2014). Angeborene Immundefekte: Welche Warnsignale sollte man kennen? Hausarzt Praxis, (9):46-48.

Pachlopnik Schmid, J. Anti-Gamma-Interferon Therapie bei genetischen Hämophagozytose-Syndromen. 2012, University of Zurich, Faculty of Medicine.

Pachlopnik Schmid, J; Canioni, D; Moshous, D; Touzot, F; Mahlaoui, N; Hauck, F; Kanegane, H; Lopez-Granados, E; Mejstrikova, E; Pellier, I; Galicier, L; Galambrun, C; Barlogis, V; Bordigoni, P; Fourmaintraux, A; Hamidou, M; Dabadie, A; Le Deist, F; Haerynck, F; Ouachée-Chardin, M; Rohrlich, P; Stephan, J L; Lenoir, C; Rigaud, S; Lambert, N; Milili, M; Schiff, C; Chapel, H; Picard, C; de Saint Basile, G; Blanche, S; Fischer, A; Latour, S (2011). Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117(5):1522-1529.

Pachlopnik Schmid, J (2011). Hämophagozytose-Syndrome. Paediatrica, 22(4):13-16.

Pachlopnik Schmid, J (2011). Syndromes hémophagocytaires. Paediatrica (édition française), 22(4):13-16.

Booth, C; Gilmour, K C; Veys, P; Gennery, A R; Slatter, M A; Chapel, H; Heath, P T; Steward, C G; Smith, O; O'Meara, A; Kerrigan, H; Mahlaoui, N; Cavazzana-Calvo, M; Fischer, A; Moshous, D; Blanche, S; Pachlopnik Schmid, J; Latour, S; de Saint-Basile, G; Albert, M; Notheis, G; Rieber, N; Strahm, B; Ritterbusch, H; Lankester, A; Hartwig, N G; Meyts, I; Plebani, A; Soresina, A; Finocchi, A; Pignata, C; Cirillo, E; Bonanomi, S; Peters, C; Kalwak, K; Pasic, S; Sedlacek, P; Jazbec, J; Kanegane, H; Nichols, K E; Hanson, I C; Kapoor, N; Haddad, E; Cowan, M; Choo, S; Smart, J; Arkwright, P D; Gaspar, H B (2011). X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood, 117(1):53-62.

Al-Idrissi, E; ElGhazali, G; Alzahrani, M; Ménasché, G; Pachlopnik Schmid, J; Geneviève de Saint, B (2010). Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. Journal of Pediatric Hematology/Oncology, 32(6):494-496.

Pachlopnik Schmid, J; de Saint Basile, G (2010). Inherited Hemophagocytic Lymphohistiocytosis (HLH). Klinische Pädiatrie, 222(6):345-350.

Pachlopnik Schmid, J; Schmid, J P; Côte, M; Ménager, M M; Burgess, A; Nehme, N; Ménasché, G; Fischer, A; de Saint Basile, G (2010). Inherited defects in lymphocyte cytotoxic activity. Immunological Reviews, 235(1):10-23.

This list was generated on Mon Oct 23 10:32:30 2017 CEST.