Rezultati pretrage - Filiz O. Seeborg
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Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans od Andrew J. Takeda, Yu Zhang, Gillian L. Dornan, Braden D. Siempelkamp, Meredith L. Jenkins, Helen Matthews, Joshua McElwee, Weimin Bi, Filiz O. Seeborg, Helen C. Su, John E. Burke, C. Lucas
Izdano 2017Carta -
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Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole ex... od Diana K. Bayer, Caridad Martinez, Hanne Sørmo Sorte, Lisa R. Forbes, Gail J. Demmler‐Harrison, I. Celine Hanson, Nathaniel M. Pearson, Lenora M. Noroski, Sherif R. Zaki, William J. Bellini, Magalie S. Leduc, Yuan Yang, Christine M. Eng, Ankita Patel, Olaug K. Rødningen, Donna M. Muzny, Richard A. Gibbs, Ian M. Campbell, Chad A. Shaw, Mei Baker, V Zhang, James R. Lupski, Jordan S. Orange, Filiz O. Seeborg, Asbjørg Stray‐Pedersen
Izdano 2014Artigo -
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Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis od Marita Bosticardo, Yasuhiro Yamazaki, Jennifer E. Cowan, Giuliana Giardino, Cristina Corsino, Giulia Scalia, Rosaria Prencipe, Melanie A. Ruffner, David A. Hill, Inga Sakovich, Irma Yemialyanava, Jonathan S. Tam, Nurcicek Padem, Melissa E. Elder, John W. Sleasman, Elena Pérez, Hana Niebur, Christine M. Seroogy, Svetlana O. Sharapova, Jennifer Gebbia, Gary Kleiner, Jane Peake, Jordan K. Abbott, Erwin W. Gelfand, Elena Crestani, Catherine M. Biggs, Manish J. Butte, Nicholas Hartog, Anthony Hayward, Karin Chen, Jennifer Heimall, Filiz O. Seeborg, Lisa M. Bartnikas, Megan A. Cooper, Claudio Pignata, Avinash Bhandoola, Luigi D. Notarangelo
Izdano 2019Artigo -
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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency od Stefano Volpi, Maria Pia Cicalese, Paul Tuijnenburg, Anton T. J. Tool, Eloy Cuadrado, Marwan Abu-Halaweh, Hamid Ahanchian, Raed Alzyoud, Zeynep Coban‐Akdemir, Federica Barzaghi, Alexander Blank, Bertrand Boisson, Cristina Bottino, Immacolata Brigida, Roberta Caorsi, Jean‐Laurent Casanova, Sabrina Chiesa, Iván K. Chinn, Gregor Dückers, Anselm Enders, Hans Christian Erichsen, Lisa R. Forbes, Tomasz Gambin, Marco Gattorno, Ehsan Ghayoor Karimiani, Silvia Giliani, Michael S. Gold, Eva‐Maria Jacobsen, Machiel H. Jansen, Jovanka King, Ronald M. Laxer, James R. Lupski, Emily M. Mace, Stefania Marcenaro, Reza Maroofian, Alexander B. Meijer, Tim Niehues, Luigi D. Notarangelo, Jordan S. Orange, Ulrich Pannicke, Chris Pearson, Paolo Picco, Patrick Quinn, Ansgar Schulz, Filiz O. Seeborg, Asbjørg Stray‐Pedersen, Hasan Tawamie, Ester M. M. van Leeuwen, Alessandro Aiuti, Rae S. M. Yeung, Klaus Schwarz, Taco W. Kuijpers
Izdano 2019Carta -
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Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients od Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglárka Ujházi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Анастасія Бондаренко, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Е. А. Деордиева, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Ignacio González‐Granado, Eyal Grunebaum, Elżbieta Grześk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Kriván, Daman Langguth, YL Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flávio Augusto Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz O. Seeborg, Svetlana O. Sharapova, Katja Sockel, Алла Волоха, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztián Csomós, Márton Keszei, João P. Pereira, Arthur G. Taveras, Sarah L. Beaussant-Cohen, Mei‐Sing Ong, Anna Shcherbina, Jolán E. Walter
Izdano 2022Artigo -
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders od Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug K. Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla M. Davis, Debra Canter, Emily M. Mace, Timothy J. Vece, Carl E. Allen, Harshal Abhyankar, Philip M. Boone, Christine R. Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E. Tjønnfjord, Tobias Gedde‐Dahl, Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski
Izdano 2016Artigo
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Medicine
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Immunodeficiency
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Environmental health
Exome sequencing
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T cell
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Avalanche photodiode
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Copy-number variation