检索结果 - Martin Armstrong
- Showing 1 - 9 results of 9
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature 由 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
出版 2016Artigo -
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Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants 由 Joseph D. Symonds, Katherine S. Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah L. Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart Macleod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T. Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C. Knight, Sameer M. Zuberi
出版 2021Artigo -
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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 由 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
出版 2017Artigo -
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Early-onset autoimmunity associated with SOCS1 haploinsufficiency 由 Jérôme Hadjadj, Carla N. Castro, Maud Tusseau, Marie–Claude Stolzenberg, Fabienne Mazerolles, Nathalie Aladjidi, Martin Armstrong, Houman Ashrafian, Ioana Cutcutache, Georg Ebetsberger‐Dachs, Katherine S. Elliott, I. Durieu, Nicole Fabien, Mathieu Fusaro, Maximilian Heeg, Yohan Schmitt, Marc Bras, Julian C. Knight, Jean‐Christophe Lega, Gaëtan Lesca, Anne‐Laure Mathieu, Marion Moreews, Baptiste Moreira, Audrey Nosbaum, Matthew J. Page, Cécile Picard, Timothy Ronan Leahy, Isabelle Rouvet, Ethel Ryan, Damien Sanlaville, Klaus Schwarz, Andrew Skelton, Jean‐François Viallard, Sébastien Viel, Marine Villard, Isabelle Callebaut, Capucine Pïcard, Thierry Walzer, Stephan Ehl, Alain Fischer, Bénédicte Neven, Alexandre Bélot, Frédéric Rieux‐Laucat
出版 2020Artigo -
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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 由 Valentina Del Dotto, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gušić, Alessandra Maresca, Leonardo Caporali, Flavia Palombo, Francesca Tagliavini, Evan H. Baugh, Bertil Macao, Zsolt Szilágyi, Camille Peron, Margaret A. Gustafson, Kamal Khan, Chiara La Morgia, Piero Barboni, Michele Carbonelli, Maria Lucia Valentino, Rocco Liguori, Vandana Shashi, Jennifer L. Sullivan, Shashi Nagaraj, Mays El-Dairi, Alessandro Iannaccone, Ioana Cutcutache, Enrico Bertini, Rosalba Carrozzo, Francesco Emma, Francesca Diomedi‐Camassei, Claudia Zanna, Martin Armstrong, Matthew Page, Nicholas Stong, Sylvia Boesch, Robert Kopajtich, Saskia B. Wortmann, Wolfgang Sperl, Erica E. Davis, William C. Copeland, Marco Seri, Maria Falkenberg, Holger Prokisch, Nicholas Katsanis, Valeria Tiranti, Tommaso Pippucci, Valério Carelli
出版 2019Artigo -
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Clinical spectrum of <i>STX1B</i> -related epileptic disorders 由 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
出版 2019Artigo -
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling 由 Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes
出版 2019Artigo
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