Search Results - Duncan McHale
- Showing 1 - 7 results of 7
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The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity by Rune Busk Damgaard, Jennifer A. Walker, Paola Marco‐Casanova, Neil V. Morgan, Hannah Titheradge, P.R. Elliott, Duncan McHale, Eamonn R. Maher, Andrew N. J. McKenzie, David Komander
Published 2016Artigo -
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature by Slavé Petrovski, Roberta Parrott, Joseph L. Roberts, Hongxiang Huang, Jialong Yang, Balachandra K. Gorentla, Talal Mousallem, Endi Wang, Martin Armstrong, Duncan McHale, Nancie J. MacIver, David B. Goldstein, Xiao‐Ping Zhong, Rebecca H. Buckley
Published 2016Artigo -
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios by Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yifan Lu, K. Melodi McSweeney, Bruria Ben‐Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek‐Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong‐hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein
Published 2015Artigo -
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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression by Nuno Rocha, David A. Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John R. Crawford, Anette P. Gjesing, Jette Bork‐Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary M. Reilly, Alexander M. Rossor, Rebecca J. Brown, Simeon I. Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimı́r Saudek, Stephen O’Rahilly, Eamonn R. Maher, Bjørn Richelsen, David B. Savage, Robert K. Semple
Published 2017Artigo -
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Clinical spectrum of <i>STX1B</i> -related epileptic disorders by Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cécilia Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess‐Walsh, Bryce A. Mendelsohn, Adam L. Numis, Maria Roberta Cilio, Wim Van Paesschen, Lene Lavard Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sáenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris Vavoulis, Samantha J.L. Knight, Jenny C. Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H. Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W. Klee, Gerhard Kluger, Daniel H. Lowenstein, Sarah Weckhuysen, Deb K. Pal, Ingo Helbig, Renzo Guerrini, Rhys H. Thomas, Mark I. Rees, Gaëtan Lesca, Sanjay M. Sisodiya, Yvonne G. Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert
Published 2019Artigo
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