Ohcanbohtosat - Bernice Lo

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Aiddostahte ozu
  1. 1
    Genomics of Immune Diseases and New Therapies

    Genomics of Immune Diseases and New Therapies Dahkki Michael J. Lenardo, Bernice Lo, C. Lucas

    Almmustuhtton 2016
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  2. 2
    Alveolar Epithelial Type II Cells Induce T Cell Tolerance to Specific Antigen

    Alveolar Epithelial Type II Cells Induce T Cell Tolerance to Specific Antigen Dahkki Bernice Lo, Søren Hansen, Kathy S. Evans, John K. Heath, Jo Rae Wright

    Almmustuhtton 2008
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    Artigo
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  3. 3
    CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency

    CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency Dahkki Bernice Lo, Jill M. Fritz, Helen C. Su, Gülbû Uzel, Michael B. Jordan, Michael J. Lenardo

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
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  4. 4
    Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature

    Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature Dahkki Khaled Zamel, Abdulrahman Ahmed Al-Subaiey, Mohamed Alsabbagh, Abeer Fadda, Amira Saeed, Bruno Mourao Pacheco, Bernice Lo, Ruba Benini

    Almmustuhtton 2025
    Viečča ollesdeavstta
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  5. 5
    Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review

    Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review Dahkki Mahnaz Jamee, Soheila Hosseinzadeh, Niusha Sharifinejad, Majid Zaki‐Dizaji, M Matloubi, Motahareh Hasani, Safa Barış, Mohamed Yaseen Alsabbagh, Bernice Lo, Gholamreza Azizi

    Almmustuhtton 2021
    Viečča ollesdeavstta Viečča ollesdeavstta
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  6. 6
    Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

    Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review Dahkki Niusha Sharifinejad, Mahnaz Jamee, Majid Zaki‐Dizaji, Bernice Lo, Mohammadreza Shaghaghi, Hamed Mohammadi, Farhad Jadidi‐Niaragh, Shiva Shaghaghi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi, Gholamreza Azizi

    Almmustuhtton 2020
    Viečča ollesdeavstta Viečča ollesdeavstta
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  7. 7
    Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease

    Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease Dahkki Ahmad A. Al-Shaibi, Ussama M. Abdel‐Motal, Satanay Hubrack, Alex N. Bullock, Amna A. Al-Marri, Nourhen Agrebi, Abdulrahman Ahmed Al-Subaiey, N Ibrahim, Adrian Charles, Saad Al-Kaabi, Muneera Almohannadi, Khalid Mohsin Al Ejji, Rafie Yakoob, Nevin S.M. Abunahia, Fayaz Ahmad Mir, Doha Hamad Medical Corporation, Holm H. Uhlig, Simon Travis, Oxford University of Oxford, Holm H. Uhlig, Anthony K Akobeng, N Ibrahim, Fatma Al-Mudahka, Bernice Lo, Doha Sidra Medicine, Holm H. Uhlig, Holm H. Uhlig, Bernice Lo

    Almmustuhtton 2021
    Viečča ollesdeavstta Viečča ollesdeavstta
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  8. 8
    Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

    Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations Dahkki Susan Price, Pamela A. Shaw, Amy E. Seitz, Gyan Joshi, Joie Davis, Julie E. Niemela, Katie Perkins, Ronald L. Hornung, Les Folio, Philip S. Rosenberg, Jennifer M. Puck, Amy P. Hsu, Bernice Lo, Stefania Pittaluga, Elaine S. Jaffe, Thomas A. Fleisher, V. Koneti Rao, Michael J. Lenardo

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
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  9. 9
    Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

    Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy Dahkki Bernice Lo, Kejian Zhang, Wei Lü, Lixin Zheng, Qian Zhang, Chrysi Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill M. Fritz, Rebecca Marsh, Ammar Husami, Diane Kissell, Shannon Nortman, Vijaya Chaturvedi, Hilary Haines, Lisa R. Young, Jun Mo, Alexandra H. Filipovich, Jack Bleesing, Peter Mustillo, Michael C. Stephens, Cesar M. Rueda, Claire Chougnet, Kasper Hoebe, Joshua McElwee, Jason D. Hughes, Elif Karakoç-Aydıner, Helen Matthews, Susan Price, Helen C. Su, V. Koneti Rao, Michael J. Lenardo, Michael B. Jordan

    Almmustuhtton 2015
    Viečča ollesdeavstta
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  10. 10
    Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

    Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency Dahkki Burcu Kolukısa, Dilek Başer, Bengü Akçam, Jeffrey J. Danielson, Sevgi Bilgiç Eltan, Yeşim Haliloğlu, Asena Pınar Sefer, Royale Babayeva, Gamze Akgun, Louis‐Marie Charbonnier, Klaus Schmitz‐Abe, Yasemin Kendir Demirkol, Yu Zhang, Claudia Gonzaga‐Jauregui, Raúl Jiménez Heredia, Nurhan Kasap, Ayça Kıykım, Esra Yücel, Veysel Gök, Ekrem Ünal, Ayşenur Paç Kısaarslan, Serdar Nepesov, Gökhan Baysoy, Zerrin Önal, Gözde Yeşil, Tıraje Celkan, Haluk Çokuğraş, Yıldız Çamcıoğlu, Ahmet Eken, Kaan Boztuğ, Bernice Lo, Elif Karakoç-Aydıner, Helen C. Su, Ahmet Özen, Talal A. Chatila, Safa Barış

    Almmustuhtton 2021
    Viečča ollesdeavstta
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  11. 11
    Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>

    Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i> Dahkki Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, Elissa K. Deenick, Julie E. Niemela, Danielle T. Avery, Jean-Nicolas Schickel, Dat Q. Tran, Jennifer Stoddard, Yu Zhang, David M. Frucht, Bogdan Dumitriu, Phillip Scheinberg, Les Folio, Cathleen Frein, Susan Price, Christopher Koh, Theo Heller, Christine M. Seroogy, Anna Huttenlocher, V. Koneti Rao, Helen C. Su, David E. Kleiner, Luigi D. Notarangelo, Yajesh Rampertaap, Kenneth N. Olivier, Joshua McElwee, Jason D. Hughes, Stefania Pittaluga, João Bosco Oliveira, Eric Meffre, Thomas A. Fleisher, Steven M. Holland, Michael J. Lenardo, Stuart G. Tangye, Gülbû Uzel

    Almmustuhtton 2014
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  12. 12
    Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency

    Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency Dahkki Ayça Kıykım, İsmail Öğülür, Esra Dursun, Louis‐Marie Charbonnier, Ercan Nain, Şükrü Çekiç, Dilek Doğruel, Neslihan Edeer Karaca, Müjde Tuba Çöğürlü, Özlem Arman Bilir, Murat Cansever, Hasan Kapaklı, Dilek Başer, Nurhan Kasap, Şeyhan Kutluğ, Derya Ufuk Altıntaş, Ahmad A. Al-Shaibi, Nourhen Agrebi, Manolya Kara, Ayla Güven, Ayper Somer, Çiğdem Aydoğmuş, Nuray Aktay Ayaz, Ayşe Metìn, Metin Aydoğan, Ayşen Uncuoğlu, Türkan Patıroğlu, Alişan Yıldıran, Şükrü Nail Güner, Sevgi Keleş, İsmail Reisli, Güzide Aksu, Necil Kütükçüler, Sara Şebnem Kılıç, M. Yılmaz, Elif Karakoç-Aydıner, Bernice Lo, Ahmet Özen, Talal A. Chatila, Safa Barış

    Almmustuhtton 2019
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  13. 13
    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease Dahkki Claire Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney, Joseph S. Leslie, Andrea Accogli, Federico Zara, Monica Traverso, James Fasham, Joshua A. Lees, Matteo P. Ferla, Barry A. Chioza, Olivia Wenger, Ethan M. Scott, Harold E. Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris P. Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamás Marton, Matthew N. Wakeling, Dirk Holzinger, Stephan Tippelt, Martin Munteanu, Deyana Valcheva, Christin Deal, Sara Van Meerbeke, Catherine Walsh Vockley, Manish J. Butte, Utkucan Acar, Marjo S. van der Knaap, Georg Christoph Korenke, Urania Kotzaeridou, Tamás Balla, Cas Simons, Holm H. Uhlig, Andrew H. Crosby, Pietro De Camilli, Nicole I. Wolf, Emma L. Baple

    Almmustuhtton 2021
    Viečča ollesdeavstta Viečča ollesdeavstta
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  14. 14
    Burden of Mendelian disorders in a large Middle Eastern biobank

    Burden of Mendelian disorders in a large Middle Eastern biobank Dahkki Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira Al‐Shabeeb Akil, Ramin Badii, Tawfeg Ben‐Omran, Bernice Lo, Said I. Ismail, Wadha Al‐Muftah, Radja Badji, Hamdi Mbarek, Dima Darwish, Tasnim Fadl, Heba Yasin, Maryem Ennaifar, Rania G. Abdel‐latif, Fatima Alkuwari, Muhammad Arshad Alvi, Yasser Al‐Sarraj, Chadi Saad, Asmaa Althani, Eleni Fethnou, Fatima Qafoud, Eiman Alkhayat, Nahla Afifi, Sara Tomei, Wei Liu, Kun Wang, Stephan Lorenz, Hakeem Almabrazi, Fazulur Rehaman Vempalli, Ramzi Temanni, Tariq Abu Saqri, Mohammedhusen Khatib, Mehshad Hamza, Tariq Abu Zaid, Ahmed El Khouly, Tushar Pathare, Shafeeq Poolat, Rashid Al‐Ali, Omar Albagha, Souhaila Al Khodor, Mashael Al-Shafai, Lotfi Chouchane, Xavier Estivill, Hamdi Mbarek, Puthen V. Jithesh, Karsten Suhre, Zohreh Tatari-Calderone, Younes Mokrab, Khalid A. Fakhro

    Almmustuhtton 2024
    Viečča ollesdeavstta Viečča ollesdeavstta
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  15. 15
    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease Dahkki Eva Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah M. Barakat, Marcus Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly Gilmour, Andrzej Wędrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem H. Ouwehand, David J. Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Eli M. Carrami, Ahmed A. Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, Marlen Zurek, Caterina Strisciuglio, Mamoun Elawad, Bernice Lo, Carolina V. Arancibia-Cárcamo, Adam Bailey, Eleanor Barnes, Elizabeth Bird‐Lieberman, Oliver Brain, Barbara Braden, Jane Collier, James E. East, Lucy Howarth, Satish Keshav, Paul Klenerman, Simon J. Leedham, Rebecca Palmer, Fiona Powrie, Alison Simmons, Matthew R. Walker, Zoe Tolkien, Stephen Kaptoge, David L. Allen, Susan Mehenny, Jonathan Mant, Emanuele Di Angelantonio, Simon G. Thompson, Bahtiyar Yılmaz, Pascal Juillerat, Markus B. Geuking, Reiner Wiest, Andrew J. Macpherson, Francisco Bravo, Lukas Brügger, Ove Carstens, Ulrike Graf Bigler, Benjamin Heimgartner, Monica Rusticeanu, Sybille Schmid, Bruno Strebel, Aurora Tatu, Radu Țuțuian, Reiner Wiest, Ove Øyås, Charlotte Ramon, Jörg Stelling, Yannick Franc, Nicolas Fournier, Valérie Pittet, Bernard Burnand, Mara Egger, Yannick Franc, Delphine Golay, Astrid Marot, Leilla Musso, Valérie Pittet, Jean‐Benoît Rossel, Vivianne Seematter, Joachim R. Sommer, Rachel Vulliamy, Pierre Michetti

    Almmustuhtton 2020
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