المؤلفون: Schuetz, Catharina, Neven, Benedicte, Dvorak, Christopher C, Leroy, Sandrine, Ege, Markus J, Pannicke, Ulrich, Schwarz, Klaus, Schulz, Ansgar S, Hoenig, Manfred, Sparber-Sauer, Monika, Gatz, Susanne A, Denzer, Christian, Blanche, Stephane, Moshous, Despina, Picard, Capucine, Horn, Biljana N, de Villartay, Jean-Pierre, Cavazzana, Marina, Debatin, Klaus-Michael, Friedrich, Wilhelm, Fischer, Alain, Cowan, Morton J

المصدر: Blood. 123(2)

مصطلحات موضوعية: Cancer, Transplantation, Genetics, Rare Diseases, Orphan Drug, Hematology, Aetiology, 2.1 Biological and endogenous factors, B-Lymphocytes, DNA-Binding Proteins, Endonucleases, Female, Follow-Up Studies, Graft vs Host Disease, HLA Antigens, Hematopoietic Stem Cell Transplantation, Homeodomain Proteins, Humans, Lymphocyte Depletion, Male, Mutation, Nuclear Proteins, Risk Factors, Severe Combined Immunodeficiency, T-Lymphocytes, Transplantation Conditioning, Treatment Outcome, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Paediatrics and Reproductive Medicine, Immunology

الوصول الحر: https://escholarship.org/uc/item/3x0679vjTest

المؤلفون: Ripperger, Tim, Bielack, Stefan S, Borkhardt, Arndt, Brecht, Ines B, Burkhardt, Birgit, Calaminus, Gabriele, Debatin, Klaus-Michael, Deubzer, Hedwig, Dirksen, Uta, Eckert, Cornelia, Eggert, Angelika, Erlacher, Miriam, Fleischhack, Gudrun, Frühwald, Michael C, Gnekow, Astrid, Goehring, Gudrun, Graf, Norbert, Hanenberg, Helmut, Hauer, Julia, Hero, Barbara, Hettmer, Simone, von Hoff, Katja, Horstmann, Martin, Hoyer, Juliane, Illig, Thomas, Kaatsch, Peter, Kappler, Roland, Kerl, Kornelius, Klingebiel, Thomas, Kontny, Udo, Kordes, Uwe, Körholz, Dieter, Koscielniak, Ewa, Kramm, Christof M, Kuhlen, Michaela, Kulozik, Andreas E, Lamottke, Britta, Leuschner, Ivo, Lohmann, Dietmar R, Meinhardt, Andrea, Metzler, Markus, Meyer, Lüder H, Moser, Olga, Nathrath, Michaela, Niemeyer, Charlotte M, Nustede, Rainer, Pajtler, Kristian W, Paret, Claudia, Rasche, Mareike, Reinhardt, Dirk, Rieß, Olaf, Russo, Alexandra, Rutkowski, Stefan, Schlegelberger, Brigitte, Schneider, Dominik, Schneppenheim, Reinhard, Schrappe, Martin, Schroeder, Christopher, von Schweinitz, Dietrich, Simon, Thorsten, Sparber-Sauer, Monika, Spix, Claudia, Stanulla, Martin, Steinemann, Doris, Strahm, Brigitte, Temming, Petra, Thomay, Kathrin, Von Bueren, André, Vorwerk, Peter, Witt, Olaf, Wlodarski, Marcin, Wössmann, Willy, Zenker, Martin, Zimmermann, Stefanie, Pfister, Stefan M, Kratz, Christian P

المصدر: ISSN: 1552-4825 ; American Journal of Medical Genetics. A, vol. 173, no. 4 (2017) p. 1017-1037.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Adolescent, Child, Focus Groups/methods, Gene Expression, Genetic Counseling/ethics, Genetic Predisposition to Disease, Genetic Testing/methods, Genetics, Medical/history/instrumentation/methods, Hematologic Neoplasms/diagnosis/genetics/pathology, History, Humans, Mutation, Neoplasm Proteins/genetics, Neoplasms/diagnosis/genetics/pathology, Societies, Medical/history, Syndrome

الوقت: 21st Century

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28168833; https://archive-ouverte.unige.ch/unige:107412Test; unige:107412

الإتاحة: https://doi.org/10.1002/ajmg.a.38142Test
https://archive-ouverte.unige.ch/unige:107412Test

المؤلفون: Pagel, Julia, Beutel, Karin, Lehmberg, Kai, Koch, Florian, Maul-Pavicic, Andrea, Rohlfs, Anna-Katharina, Al-Jefri, Abdullah, Beier, Rita, Ousager, Lilian Bomme, Ehlert, Karoline, Gross-Wieltsch, Ute, Jorch, Norbert, Kremens, Bernhard, Pekrun, Arnulf, Sparber-Sauer, Monika, Mejstrikova, Ester, Wawer, Angela, Ehl, Stephan, zur Stadt, Udo, Janka, Gritta

المصدر: Pagel , J , Beutel , K , Lehmberg , K , Koch , F , Maul-Pavicic , A , Rohlfs , A-K , Al-Jefri , A , Beier , R , Ousager , L B , Ehlert , K , Gross-Wieltsch , U , Jorch , N , Kremens , B , Pekrun , A , Sparber-Sauer , M , Mejstrikova , E , Wawer , A , Ehl , S , zur Stadt , U & Janka , G 2012 , ' Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic ....

مصطلحات موضوعية: Adolescent, Adult, Basophil Degranulation Test, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Epistasis, Genetic, Female, Genetic Association Studies, Humans, Infant, Newborn, Lymphohistiocytosis, Hemophagocytic, Male, Models, Biological, Munc18 Proteins, Mutation, Qa-SNARE Proteins, Young Adult

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/51c4ac30-40a1-4861-bcb9-803dd8169138Test

الإتاحة: https://doi.org/10.1182/blood-2011-12-398958Test
https://portal.findresearcher.sdu.dk/da/publications/51c4ac30-40a1-4861-bcb9-803dd8169138Test