检索结果 - Raphael Scheible

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  1. 1
    MIRACUM-Pipe: An Adaptable Pipeline for Next-Generation Sequencing Analysis, Reporting, and Visualization for Clinical Decision Making

    MIRACUM-Pipe: An Adaptable Pipeline for Next-Generation Sequencing Analysis, Reporting, and Visualization for Clinical Decision Making 由 Patrick Metzger, Maria Elena Hess, Andreas Blaumeiser, Thomas Pauli, V. Schipperges, Ralf Mertes, Jan Christoph, Philipp Unberath, Niklas Reimer, Raphael Scheible, Anna Lena Illert, Hauke Busch, Geoffroy Andrieux, Melanie Boerries

    出版 2023
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  2. 2
    Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

    Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syn... 由 Maria Elena Maccari, Hassan Abolhassani, Asghar Aghamohammadi, Alessandro Aiuti, Olga Aleinikova, C Bangs, Safa Barış, Federica Barzaghi, Helen Baxendale, Matthew Buckland, Siobhán O. Burns, Caterina Cancrini, Andrew J. Cant, P. Cathébras, Marina Cavazzana, Anita Chandra, Francesca Conti, Tanya Coulter, Lisa Devlin, David Edgar, Saul N. Faust, Alain Fischer, Marina García-Prat, Lennart Hammarström, Maximilian Heeg, Stephen Jolles, Elif Karakoç-Aydıner, Gerhard Kindle, Ayça Kıykım, Dinakantha Kumararatne, Bodo Grimbacher, Hilary Longhurst, Nizar Mahlaoui, Tomáš Milota, Fernando Moreira, Despina Moshous, Anna Mukhinа, Olaf Neth, Bénédicte Neven, Alexandra Nieters, Peter Olbrich, Ahmet Özen, Jana Pachlopnik Schmid, Capucine Pïcard, Seraina Prader, William Rae, Janine Reichenbach, Stephan Rusch, Sinisa Savic, Alessia Scarselli, Raphael Scheible, Anna Šedivá, Svetlana O. Sharapova, Anna Shcherbina, Mary Slatter, Pere Soler‐Palacín, Aurélie Stanislas, Felipe Suárez, Francesca Tucci, Annette Uhlmann, Joris van Montfrans, Klaus Warnatz, Anthony P. Williams, Philip A. Wood, Sven Kracker, Alison M. Condliffe, Stephan Ehl

    出版 2018
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  3. 3
    The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

    The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity 由 Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann, Isabella Quinti, Matthew Buckland, Joris van Montfrans, Raphael Scheible, Stephan Rusch, Lukas Gasteiger, Bodo Grimbacher, Nizar Mahlaoui, Stephan Ehl, Mario Abinun, Michael H. Albert, Sarah Beaussant-Cohen, Jacinta Bustamante, Andrew J. Cant, Jean‐Laurent Casanova, Helen Chapel, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Jean Donadieu, Anne Durandy, David Edgar, Teresa Español, Amos Etzioni, Alain Fischer, Bobby Gaspar, Richard A. Gatti, Andrew R. Gennery, Sofia Grigoriadou, Steven M. Holland, Gritta Janka, Maria Kanariou, Christoph Klein, Helen J. Lachmann, Desa Lilić, Ania Manson, N. Pascual Martínez, Isabelle Meyts, Nicolette Moes, Despina Moshous, Bénédicte Neven, Hans D. Ochs, Capucine Pïcard, Ellen D. Renner, Frédéric Rieux‐Laucat, Reinhard Seger, Annarosa Soresina, Dominique Stoppa‐Lyonnet, Vojtěch Thon, Adrian J. Thrasher, Frank L. van de Veerdonk, Anna Villa, Corry M.R. Weemaes, Klaus Warnatz, Beata M. Wolska, Shen-Yin Zhang

    出版 2019
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  4. 4
    The German National Registry of Primary Immunodeficiencies (2012–2017)

    The German National Registry of Primary Immunodeficiencies (2012–2017) 由 Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan Ehl, Maximilian Heeg, Maria Elena Maccari, Henrike Ritterbusch, Carsten Speckmann, Stephan Rusch, Raphael Scheible, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann, Alexandra Dopfer‐Jablonka, G. Mielke, Reinhold Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif G. Hanitsch, Carmen Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Faßhauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae‐Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Juergen Laws, Jennifer Neubert, Prasad T. Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc Schmalzing, Eva C. Schwaneck, Hans‐Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Foell, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Möhr, Linda Geberzahn, Christian M. Hedrich, Christiane Müller, Angela Rösen‐Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, U. Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Henes, Lothar Kanz, Christoph Boesecke, Jürgen K. Rockstroh, Carolynne Schwarze‐Zander, Jan‐Christian Wasmuth, Dagmar Dilloo, B Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck

    出版 2019
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  5. 5
    Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

    Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity 由 Maria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, Tiziana Lorenzini, Jennifer W. Leiding, Nathalie Aladjdi, Hassan Abolhassani, Wadih Abou‐Chahla, Alessandro Aiuti, Saba Azarnoush, Safa Barış, Vincent Barlogis, Federica Barzaghi, Ulrich Baumann, Markéta Bloomfield, Nadezda Bohynikova, Damien Bodet, David Boutboul, Giorgia Bucciol, Matthew Buckland, Siobhán O. Burns, Caterina Cancrini, P. Cathébras, Marina Cavazzana, Morgane Cheminant, Matteo Chinello, Peter Čižnár, Tanya Coulter, Maud D’Aveni, Olov Ekwall, Želimir Erić, Efrem Eren, Anders Fasth, Pierre Frange, Benjamin Fournier, Marina García-Prat, Martine Gardembas, Christoph B. Geier, Sujal Ghosh, Vera Goda, Lennart Hammarström, Fabian Hauck, Maximilian Heeg, Edyta Heropolitańska–Pliszka, Anna Hilfanova, Stephen Jolles, Elif Karakoç-Aydıner, Gerhard Kindle, Ayça Kıykım, Christian Klemann, Patra Koletsi, Sylwia Kołtan, Irina Kondratenko, Julia Körholz, Renate Krüger, Éric Jeziorski, Romain Lévy, G. Le Guenno, Guillaume Lefèvre, Vassilios Lougaris, Antonio Marzollo, Nizar Mahlaoui, Marion Malphettes, Andrea Meinhardt, Étienne Merlin, Isabelle Meyts, Tomáš Milota, Fernando Moreira, Despina Moshous, Anna Mukhinа, Olaf Neth, Jennifer Neubert, Bénédicte Neven, Alexandra Nieters, R. Nove‐Josserand, Éric Oksenhendler, Ahmet Özen, Peter Olbrich, Antoinette Perlat, Małgorzata Pac, Jana Pachlopnik Schmid, Lucia Pacillo, Alba Parra-Martínez, Olga Paschenko, Isabelle Pellier, Asena Pınar Sefer, Alessandro Plebani, Dominique Plantaz, Seraina Prader, L. Raffray, Henrike Ritterbusch, Jacques G. Rivière, Beatrice Rivalta, Stephan Rusch, Inga Sakovich, Sinisa Savic, Raphael Scheible, N. Schleinitz, Catharina Schuetz, Ansgar Schulz

    出版 2023
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