檢索結果 - Guoliang Chai
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Developmental and temporal characteristics of clonal sperm mosaicism 由 Xiaoxu Yang, Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley, Laurel Ball, Renee D. George, Sara A. Wirth, Beibei Cao, An Nguyen, Jennifer McEvoy‐Venneri, Guoliang Chai, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Jonathan Sebat, Joseph G. Gleeson
出版 2021Artigo -
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A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion 由 Guoliang Chai, Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor G Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy‐Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria Betânia Pereira Toralles, Paula M.L. Pitanga, Ratna Dua Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli‐Avella, Nouriya Al‐Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson
出版 2021Artigo -
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Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 由 Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St‐Denis, Guoliang Chai, Norbert Fonya Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry‐Kravis, Fan Xia, Jessica Tardif, David Parry, Clare V. Logan, Christine P. Diggle, Christopher Bennett, Louise Hattingh, Jill A. Rosenfeld, Μ. Scott Perry, Michael Parker, Françoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau
出版 2017Artigo -
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome 由 Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon‐Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al‐Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Valentina Stanley, Andreea Manole, Uğur Akpulat, Marjan M. Weiss, Stéphanie Efthymiou, Michael G. Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Lisa Weixler, Peter Nürnberg, Hölger Thiele, Uluç Yiş, Tuncay Derya Okur, Ayşe Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran Beiraghi Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M. van Hagen, Nicole I. Wolf, Reza Maroofian, Henry Houlden, Sebahattin Çırak, Joseph G. Gleeson
出版 2018Artigo -
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 由 Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson
出版 2020Artigo -
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Somatic mosaicism reveals clonal distributions of neocortical development 由 Martin W. Breuss, Xiaoxu Yang, Johannes C. M. Schlachetzki, Danny Antaki, Addison J. Lana, Xin Xu, Changuk Chung, Guoliang Chai, Valentina Stanley, Qiong Song, Traci Fang Newmeyer, An T. Nguyen, S O'Brien, Marten A. Hoeksema, Beibei Cao, Alexi Nott, Jennifer McEvoy‐Venneri, Martina P. Pasillas, Scott T. Barton, Brett Copeland, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Joseph G. Gleeson, Martin W. Breuss, Xiaoxu Yang, Danny Antaki, Changuk Chung, Dan Averbuj, Eric Courchesne, Laurel Ball, Subhojit Roy, Daniel R. Weinberger, Andrew E. Jaffe, Apuã C.M. Paquola, Jennifer A. Erwin, Jooheon Shin, Michael J. McConnell, Richard E. Straub, Rujuta Narurkar, Gary W. Mathern, Christopher A. Walsh, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Eduardo A. Maury, Javier Ganz, Michael A. Lodato, Michael B. Miller, Pengpeng Li, Rachel E. Rodin, Rebeca Borges-Monroy, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Sonia Kim, Zinan Zhou, Peter J. Park, Alison R. Barton, Alon Galor, Chong Chu, Craig L. Bohrson, D. Gulhan, Elaine T. Lim, Eun‐Cheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell A. Sherman, Michael E. Coulter, Min‐Seok Kwon, Semin Lee, Soo In Lee, Vinary Viswanadham, Yanmei Dou, Andrew Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Cindy Molitor, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alexander E. Urban, Bo Zhou, Reenal Pattni, Xiaowei Zhu, Aitor Serres Amero
出版 2022Artigo
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