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对已上传原文的论文进行重点信息的提取,主要内容包括:简要概述、研究摘要、背景介绍、关键亮点、图文解析、展望与总结。

期刊

Genetics in Medicine 封面图
Genetics in Medicine
IF:
6.2
论文数:
5.1K
被引数:
2.0W

机构

H
hospital for sick children (sickkids)
学者数:
1.1W
论文数: 8.1K
被引数: 16
U
university of toronto
学者数:
14.8W
论文数: 12.0W
被引数: 165
引用论文

引用论文

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome使用常见的遗传变异来检查22 q11.2缺失综合征的表型表达和风险预测
err2020-11-09
err89
errOAAI
errDavies, Robert W.; Fiksinski, Ania M.; Breetvelt, Elemi J.; Williams, Nigel M.; Hooper, Stephen R.; Monfeuga, Thomas; Bassett, Anne S.; Owen, Michael J.; Gur, Raquel E.; Morrow, Bernice E.; McDonald-McGinn, Donna M.; Swillen, Ann; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; van Amelsvoort, Therese; Arango, Celso; Armando, Marco; Campbell, Linda E.; Cubells, Joseph F.; Eliez, Stephan; Garcia-Minaur, Sixto; Gothelf, Doron; Kates, Wendy R.; Murphy, Kieran C.; Murphy, Clodagh M.; Murphy, Declan G.; Philip, Nicole; Repetto, Gabriela M.; Shashi, Vandana; Simon, Tony J.; Suner, Damian Heine; Vicari, Stefano; Scherer, Stephen W.; Bearden, Carrie E.; Vorstman, Jacob A. S.
err分享
err收藏
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders荟萃分析和多学科共识声明: 外显子组测序是神经发育障碍患者的一级临床诊断测试
err2019-11-01
err412
errOAAI
errSrivastava, Siddharth; Love-Nichols, Jamie A.; Dies, Kira A.; Ledbetter, David H.; Martin, Christa L.; Chung, Wendy K.; Firth, Helen, V; Frazier, Thomas; Hansen, Robin L.; Prock, Lisa; Brunner, Han; Hoang, Ny; Scherer, Stephen W.; Sahin, Mustafa; Miller, David T.; Restrepo, Bibiana; Shankar, Suma; Riggs, Erin Rooney; Constantinou, Pete; Reed-Weston, Anne; Tong, R. Spencer; Howe, Jennifer; Buchanan, Janet; Fisher, Rachel; Mahida, Sonal
err分享
err收藏
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)SFARI基因2.0: 自闭症谱系障碍 (ASDs) 的社区驱动知识库
err2013-10-03
err582
errOAAI
errAbrahams, Brett S.; Arking, Dan E.; Campbell, Daniel B.; Mefford, Heather C.; Morrow, Eric M.; Weiss, Lauren A.; Menashe, Idan; Wadkins, Tim; Banerjee-Basu, Sharmila; Packer, Alan
err分享
err收藏
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
err2012-02-09
err371
errOAAI
errLeblond, Claire S.; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsater, Henrik; Nygren, Gudrun; Gillberg, I. Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemiere, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P.; Jarvela, Irma; Kantojarvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A.; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M.; Poustka, Fritz; Freitag, Christine M.; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F.; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W.; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Bonneau, Dominique; Guinchat, Vincent; Devillard, Francoise; Assouline, Brigitte; Mouren, Marie-Christine; Leboyer, Marion; Gillberg, Christopher; Boeckers, Tobias M.; Bourgeron, Thomas
err分享
err收藏
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
err2021-02-15
err9
PREAI
errOhashi, Kei; Fukuhara, Satomi; Miyachi, Taishi; Asai, Tomoko; Imaeda, Masayuki; Goto, Masahide; Kurokawa, Yoshie; Anzai, Tatsuya; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Yamagata, Takanori; Saitoh, Shinji
err分享
err收藏
Transcription-Coupled Repair of 8-oxoguanine: Requirement for XPG, TFIIH, and CSB and Implications for Cockayne Syndrome
errCell
IF0
err2005-11-01
err0
errOAAI
errFlorence Le Page; Ely E. Kwoh; Anna Avrutskaya; Alain Gentil; Steven A. Leadon; Alain Sarasin; Priscilla K. Cooper
err分享
err收藏
Regional alterations in RGS4 protein in schizophrenia精神分裂症中RGS4蛋白的区域变化
err2006-01-01
err0
PREAI
errHolly A. Erdely; Carol A. Tamminga; Rosalinda C. Roberts; Michael W. Vogel
err分享
err收藏
Chemoreduction of Progressive Intraocular Retinoblastoma by Systemic Topotecan
err2016-01-13
err0
PREAI
errIyad Sultan; Yasmin Hajja; Ibrahim Nawaiseh; Mustafa Mehyar; Rasha Deebajah; Imad Jaradat; Yacoub A. Yousef
err分享
err收藏
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