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Anzahl der Publikationen: 7
Zeitschriftenartikel
Koehler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C.; Lewis-Smith, David; Vasilevsky, Nicole A.; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M.; Callahan, Tiffany J.; Chute, Christopher G.; Est, Johanna L.; Galer, Peter D.; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L.; Hartnett, Michael J.; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A.; Miller, Jillian A.; Munoz-Torres, Monica C.; Peters, Rebecca L.; Rapp, Christina K.; Rath, Ana M.; Rind, Shahmir A.; Rosenberg, Avi Z.; Segal, Michael M.; Seidel, Markus G.; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A.; Xian, Julie; Yueksel, Zafer; Helbig, Ingo; Mungall, Christopher J.; Haendel, Melissa A. und Robinson, Peter N.
(2021):
The Human Phenotype Ontology in 2021.
In: Nucleic Acids Research, Bd. 49, Nr. D1:
D1207-D1217
Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M.; Pietrucha, Barbara; Plebani, Alessandro; Flier, Michiel van der; Aerde, Koen van; Kilic, Sara S.; Reda, Shereen M.; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Perez, Juan Luis Santos; Laws, Hans-Jürgen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G.; Marques, Laura; Ciznar, Peter; Edgar, John David M.; Soler-Palacin, Pere; Bernuth, Horst von; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodriguez-Gallego, Carlos; Arkwright, Peter D.; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O.; Lehmberg, Kai; Davies, E. Graham; Schuetz, Catharina; Kindle, Gerhard und Schubert, Ralf
(2021):
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1878-1892
Storf, Holger; Stausberg, Jürgen; Kindle, Gerhard; Quadder, Bernd; Schlangen, Miriam; Walter, Maggie C.; ückert, Frank und Wagner, Thomas O. F.
(2020):
Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE).
In: Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz, Bd. 63, Nr. 6: S. 761-770
Shai, Sonu; Perez-Becker, Ruy; Andres, Oliver; Bakhtiar, Shahrzad; Bauman, Ulrich; von Bernuth, Horst; Classen, Carl-Friedrich; Dueckers, Gregor; El-Helou, Sabine M.; Gangfuss, Andrea; Ghosh, Sujal; Grimbacher, Bodo; Hauck, Fabian; Hoenig, Manfred; Husain, Ralf A.; Kindle, Gerhard; Kipfmueller, Florian; Klemann, Christian; Krueger, Renate; Lainka, Elke; Lehmberg, Kai; Lohrmann, Florens; Morbach, Henner; Naumann-Bartsch, Nora; Oommen, Prasad Thomas; Schulz, Ansgar; Seidemann, Kathrin; Speckmann, Carsten; Sykora, Karl-Walter; Kries, Rüdiger von und Niehues, Tim
(2020):
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit fur Seltene Padiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Padiatrische Immunologie.
In: Journal of Clinical Immunology, Bd. 40, Nr. 5: S. 708-717
Scheible, Raphael; Kadioglu, Dennis; Ehl, Stephan; Blum, Marco; Boeker, Martin; Folz, Michael; Grimbacher, Bodo; Gobel, Jens; Klein, Christoph; Nieters, Alexandra; Rusch, Stephan; Kindle, Gerhard und Storf, Holger
(2020):
Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry.
In: Jmir Medical Informatics, Bd. 8, Nr. 10, e17420
El-Helou, Sabine M.; Biegner, Anika-Kerstin; Bode, Sebastian; Ehl, Stephan R.; Heeg, Maximilian; Maccari, Maria E.; Ritterbusch, Henrike; Speckmann, Carsten; Rusch, Stephan; Scheible, Raphael; Warnatz, Klaus; Atschekzei, Faranaz; Beider, Renata; Ernst, Diana; Gerschmann, Stev; Jablonka, Alexandra; Mielke, Gudrun; Schmidt, Reinhold E.; Schuermann, Gesine; Sogkas, Georgios; Baumann, Ulrich H.; Klemann, Christian; Viemann, Dorothee; von Bernuth, Horst; Krüger, Renate; Hanitsch, Leif G.; Scheibenbogen, Carmen M.; Wittke, Kirsten; Albert, Michael H.; Eichinger, Anna; Hauck, Fabian; Klein, Christoph; Rack-Hoch, Anita; Sollinger, Franz M.; Avila, Anne; Borte, Michael; Borte, Stephan; Fasshauer, Maria; Hauenherm, Anja; Kellner, Nils; Müller, Anna H.; Uelzen, Anett; Bader, Peter; Bakhtiar, Shahrzad; Lee, Jae-Yun; Hess, Ursula; Schubert, Ralf; Woelke, Sandra; Zielen, Stefan; Ghosh, Sujal; Laws, Hans-Jürgen; Neubert, Jennifer; Oommen, Prasad T.; Hoenig, Manfred; Schulz, Ansgar; Steinmann, Sandra; Schwarz, Klaus; Dueckers, Gregor; Lamers, Beate; Langemeyer, Vanessa; Niehues, Tim; Shai, Sonu; Graf, Dagmar; Mueglich, Carmen; Schmalzing, Marc T.; Schwaneck, Eva C.; Tony, Hans-Peter; Dirks, Johannes; Haase, Gabriele; Liese, Johannes G.; Morbach, Henner; Foell, Dirk; Hellige, Antje; Wittkowski, Helmut; Masjosthusmann, Katja; Mohr, Michael; Geberzahn, Linda; Hedrich, Christian M.; Müller, Christiane; Roesen-Wolff, Angela; Roesler, Joachim; Zimmermann, Antje; Behrends, Uta; Rieber, Nikolaus; Schauer, Uwe; Handgretinger, Rupert; Holzer, Ursula; Henes, Jörg; Kanz, Lothar; Boesecke, Christoph; Rockstroh, Jürgen K.; Schwarze-Zander, Carolynne; Wasmuth, Jan-Christian; Dilloo, Dagmar; Huelsmann, Brigitte; Schönberger, Stefan; Schreiber, Stefan; Zeuner, Rainald; Ankermann, Tobias; von Bismarck, Philipp; Huppertz, Hans-Iko; Kaiser-Labusch, Petra; Greil, Johann; Jakoby, Donate; Kulozik, Andreas E.; Metzler, Markus; Naumann-Bartsch, Nora; Sobik, Bettina; Graf, Norbert; Heine, Sabine; Kobbe, Robin; Lehmberg, Kai; Müller, Ingo; Herrmann, Friedrich; Horneff, Gerd; Klein, Ariane; Peitz, Joachim; Schmidt, Nadine; Bielack, Stefan; Gross-Wieltsch, Ute; Classen, Carl F.; Klasen, Jessica; Deutz, Peter; Kamitz, Dirk; Lassay, Lisa; Tenbrock, Klaus; Wagner, Norbert; Bernbeck, Benedikt; Brummel, Bastian; Lara-Villacanas, Eusebia; Muenstermann, Esther; Schneider, Dominik T.; Tietsch, Nadine; Westkemper, Marco; Weiss, Michael; Kramm, Christof; Kühnle, Ingrid; Kullmann, Silke; Girschick, Hermann; Specker, Christof; Vinnemeier-Laubenthal, Elisabeth; Haenicke, Henriette; Schulz, Claudia; Schweigerer, Lothar; Müller, Thomas G.; Stiefel, Martina; Belohradsky, Bernd H.; Soetedjo, Veronika; Kindle, Gerhard und Grimbacher, Bodo
(19. Juli 2019):
The German National Registry of Primary Immunodeficiencies (2012-2017).
In: Frontiers in Immunology, Bd. 10, 1272: S. 1-25
[PDF, 2MB]
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; Montfrans, Joris van; 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; Veerdonk, Frank L. van de; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D.; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne; Cypowyj, Sophie; Thumerelle, Caroline; Toulon, Antoine; Bustamante, Jacinta; Tahuil, Natalia; Salhi, Aicha; Boiu, Sorina; Chopra, Charu; Di Giovanni, Daniela; Bezrodnik, Liliana; Boutros, Jeannette; Thomas, Caroline; Lacuesta, Gina; Jannier, Sarah; Korganow, Anne-Sophie; Paillard, Catherine; Boutboul, David; Bue, Melanie; Marie-Cardine, Aude; Bayart, Sophie; Migaud, Melanie; Weiss, Laurence; Karmochkine, Marina; Garcia-Martinez, Juan-Miguel; Stephan, Jean-Louis; Bensaid, Philippe; Jaennoel, Guy-Patrick; Witte, Torsten; Baumann, Ulrich; Harrer, Thomas; Navarrete, Carmen; Benjamin, Antony Terance; Firinu, Davide; Pignata, Claudio; Picco, Paolo; Mendoza, David; Reyes, Saul Oswaldo Lugo; Lozano, Carlos Torres; Ortega-Cisneros, Margarita; Cortina, Mariana; Mesdaghi, Mehrnaz; Nabavi, Mohammad; Espanol, Teresa; Martinez-Saavedra, Maia Teresa; Rezaei, Nima; Zoghi, Samaneh; Pac, Malgorzata; Barlogis, Vincent; Revon-Riviere, Gabriel; Haimi-Cohen, Yishai; Spiegel, Ronen; Miron, Dan; Bouchaib, Jabir; Blancas-Galicia, Lizbeth; Toth, Beata; Drexel, Barbara; Rohrlich, Pierre Simon; Lesens, Olivier; Hoernes, Miriam; Drewe, Elizabeth; Abinum, Mario; Sawalle-Belohradsky, Julie; Kindle, Gerhard; Depner, Mark; Milani, Lili; Nikopensius, Tiit; Remm, Maido; Talas, Ulvi Gerst; Tucker, Mark; Willis, Mary; Leonard, Stephanie; Meuwissen, Hilaire; Ferdman, Ronald M.; Wallace, Mark; Desai, Mukesh M.; Taur, Prasad; Badolato, Raffaele; Soltesz, Beata; Schnopp, Christina; Jansson, Annette F.; Ayvaz, Deniz; Shabashova, Nadejda; Chernyshova, Liudmyla; Bondarenko, Anastasia; Moshous, Despina; Neven, Benedicte; Boubidi, Chahinez; Ailal, Fatima; Giardino, Giuliana; Del Giacco, Stefano; Bougnoux, Marie-Elisabeth; Imai, Kohsuke; Okawa, Teppei; Mizoguchi, Yoko; Ozaki, Yusuke; Takeuchi, Masato; Hayakawa, Akira; Logering, Birgit; Reich, Kristian; Buhl, Timo; Eyerich, Kilian; Schaller, Martin; Arkwright, Peter D.; Gennery, Andrew R.; Cant, Andrew J.; Warris, Adilia; Henriet, Stefanie; Mekki, Najla; Barbouche, Ridha; Ben Mustapha, Imen; Bodemer, Christine; Polak, Michel; Grimprel, Emmanuel; Burgel, Pierre-Regis; Fischer, Alain; Hermine, Olivier; Debre, Marianne; Kocacyk, Dilara; Dhalla, Fatima; Patel, Smita Y.; Moens, Leen; Haerynck, Filomeen; Dullaers, Melissa; Hoste, Levi; Sanal, Ozden; Kilic, Sara Sebnem; Roesler, Joachim; Lanternier, Fanny; Lortholary, Olivier; Fieschi, Claire; Church, Joseph A.; Roifman, Chaim; Yuenyongviwat, Araya; Peterson, Part; Boisson-Dupuis, Stephanie; Abel, Laurent; Marciano, Beatriz E. und Netea, Mihai G.
(2016):
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
In: Blood, Bd. 127, Nr. 25: S. 3154-3164