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Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions 22q11.22-23远端染色体缺失个体中先天性心脏病的发生率及谱系 Nelson, Tanner J.; McGinn, Daniel E.; Crowley, T. Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M. Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S.; Zackai, Elaine H.; Zhang, Zhengdong D.; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S.; Morrow, Bernice E.; McDonald-McGinn, Donna M. 分享 收藏
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Adult Phenotype of CHD2-Associated Disorders Rong, Marlene; Ali, Quratulain Zulfiqar; Aledo-Serrano, Angel; Bayat, Allan; Devinsky, Orrin; Qaiser, Farah; Chandran, Ilakkiah; Ali, Anum; Fasano, Alfonso; Bassett, Anne S.; Andrade, Danielle M. 分享 收藏
Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications 22 q11.2和16 p11.2缺失和重复的神经认知特征 Gur, Ruben C.; Bearden, Carrie E.; Jacquemont, Sebastien; Swillen, Ann; van Amelsvoort, Therese; van den Bree, Marianne; Vorstman, Jacob; Sebat, Jonathan; Ruparel, Kosha; Gallagher, Robert Sean; Mcclellan, Emily; White, Lauren; Crowley, Terrence Blaine; Giunta, Victoria; Kushan, Leila; O'Hora, Kathleen; Verbesselt, Jente; Vandensande, Ans; Vingerhoets, Claudia; van Haelst, Mieke; Hall, Jessica; Harwood, Janet; Chawner, Samuel J. R. A.; Patel, Nishi; Palad, Katrina; Hong, Oanh; Guevara, James; Martin, Charles Olivier; Jizi, Khadije; Belanger, Anne-Marie; Scherer, Stephen W.; Bassett, Anne S.; McDonald-McGinn, Donna M.; Gur, Raquel E. 分享 收藏
The mental health and traumatic experiences of mothers of children with 22q11DS 22q11DS儿童母亲的精神卫生和创伤经历 Finless, Alexandra; Rideout, Andrea L.; Xiong, Ting; Carbyn, Holly; Lingley-Pottie, Patricia; Palmer, Lisa D.; Shugar, Andrea; McDonald-McGinn, Donna M.; McGrath, Patrick J.; Bassett, Anne S.; Cytrynbaum, Cheryl; Orr, Matt; Swillen, Ann; Meier, Sandra 分享 收藏
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease Stanley, Kaitlin J.; Kalbfleisch, Kelsey J.; Moran, Olivia M.; Chaturvedi, Rajiv R.; Roifman, Maian; Chen, Xin; Manshaei, Roozbeh; Martin, Nicole; McDermott, Simina; McNiven, Vanda; Myles-Reid, Diane; Nield, Lynne E.; Reuter, Miriam S.; Schwartz, Marci L. B.; Shannon, Patrick; Silver, Rachel; Somerville, Cherith; Teitelbaum, Ronni; Zahavich, Laura; Bassett, Anne S.; Kim, Raymond H.; Mital, Seema; Chitayat, David; Jobling, Rebekah K. 分享 收藏
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Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome 基于源的形态计量学揭示了22 q11.2缺失综合征的结构性脑模式异常 Ge, Ruiyang; Ching, Christopher R. K.; Bassett, Anne S.; Kushan, Leila; Antshel, Kevin M.; van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy J.; Campbell, Linda E.; Chow, Eva W. C.; Craig, Michael; Crossley, Nicolas A.; Cunningham, Adam; Daly, Eileen; Doherty, Joanne L.; Durdle, Courtney A.; Emanuel, Beverly S.; Fiksinski, Ania; Forsyth, Jennifer K.; Fremont, Wanda; Goodrich-Hunsaker, Naomi J.; Gudbrandsen, Maria; Gur, Raquel E.; Jalbrzikowski, Maria; Kates, Wendy R.; Lin, Amy; Linden, David E. J.; Mccabe, Kathryn L.; McDonald-McGinn, Donna; Moss, Hayley; Murphy, Declan G.; Murphy, Kieran C.; Owen, Michael J.; Villalon-Reina, Julio E.; Repetto, Gabriela M.; Roalf, David R.; Ruparel, Kosha; Schmitt, J. Eric; Schuite-Koops, Sanne; Angkustsiri, Kathleen; Sun, Daqiang; Vajdi, Ariana; van den Bree, Marianne; Vorstman, Jacob; Thompson, Paul M.; Vila-Rodriguez, Fidel; Bearden, Carrie E. 分享 收藏
Adult Phenotype of SYNGAP1-DEE Rong, Marlene; Benke, Tim; Ali, Quratulain Zulfiqar; Aledo-Serrano, Angel; Bayat, Allan; Rossi, Alessandra; Devinsky, Orrin; Qaiser, Farah; Ali, Anum S.; Fasano, Alfonso; Bassett, Anne S.; Andrade, Danielle M. 分享 收藏
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Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia 罕见的编码变体作为22 q11.2缺失的风险修饰语暗示了综合征型精神分裂症的产后皮质发育 Lin, Jhih-Rong; Zhao, Yingjie; Jabalameli, M. Reza; Nguyen, Nha; Mitra, Joydeep; Swillen, Ann; Vorstman, Jacob A. S.; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; Owen, Michael J.; Williams, Nigel M.; Bassett, Anne S.; McDonald-McGinn, Donna M.; Gur, Raquel E.; Bearden, Carrie E.; Morrow, Bernice E.; Lachman, Herbert M.; Zhang, Zhengdong D. 分享 收藏