检索结果 - Yongguo Yu
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Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development 由 Yanjie Fan, Xia Zhang, Lili Wang, Ruifang Wang, Zhuo Huang, Yu Sun, Ruen Yao, Xiaodong Huang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Xuefan Gu, Yongguo Yu
出版 2017Artigo -
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Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder 由 Xiujuan Du, Xueren Gao, Xin Liu, Lixiao Shen, Kai Wang, Yanjie Fan, Yu Sun, Xiaomei Luo, Huili Liu, Lili Wang, Yu Wang, Zhuwen Gong, Jianguo Wang, Yongguo Yu, Fēi Li
出版 2018Artigo -
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Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions 由 Andrew Dauber, Yongguo Yu, Michael C. Turchin, Charleston W. K. Chiang, Yan Meng, Ellen W. Demerath, Sanjay R. Patel, Stephen S. Rich, Jerome I. Rotter, Pamela J. Schreiner, James Wilson, Yiping Shen, Bai-Lin Wu, Joel N. Hirschhorn
出版 2011Artigo -
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Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts 由 Fan Tong, Jian Wang, Rui Xiao, Bingbing Wu, Chaochun Zou, Dingwen Wu, Hua Wang, Hui Zou, Lianshu Han, Lin Yang, Lin Zou, Mingyan Hei, Rulai Yang, Tianming Yuan, Wei Wen, Xinwen Huang, Xuefan Gu, Yanling Yang, Yonglan Huang, Yongjun Zhang, Yongguo Yu, Zhengfeng Xu, Wenhao Zhou, Zhengyan Zhao
出版 2022Editorial -
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Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation 由 Guangya Zhu, Jingjing Xie, Wenna Kong, Jingfei Xie, Yichen Li, Lin Du, Qiangang Zheng, Lin Sun, Mingfeng Guan, Huan Li, Tianxin Zhu, Hao He, Zhenying Liu, Xi Xia, Kan Chen, Youqi Tao, Hong C. Shen, Dan Li, Siying Wang, Yongguo Yu, Zhihong Yu, Zhong‐Yin Zhang, Cong Liu, Jidong Zhu
出版 2020Artigo -
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus 由 Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans
出版 2013Artigo -
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 由 Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas
出版 2011Artigo
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