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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

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作者: den Hoed, Joery [1] ; de Boer, Elke [2] ; Voisin, Norine [3] ; Dingemans, Alexander J. M. [4] ; Guex, Nicolas [5] ; Wiel, Laurens [6] ; Nellaker, Christoffer [7] ; Amudhavalli, Shivarajan M. [8] ; Banka, Siddharth [9] ; Bena, Frederique S. [10] ; Ben-Zeev, Bruria [11] ; Bonagura, Vincent R. [12] ; Bruel, Ange-Line [13] ; Brunet, Theresa [14] ; Brunner, Han G. [15] ; Chew, Hui B. [16] ; Chrast, Jacqueline [17] ; Cimbalistiene, Loreta [18] ; Coon, Hilary [19] ; Delot, Emmanuelle C. [20] ; Demurger, Florence [21] ; Denomme-Pichon, Anne-Sophie [22] ; Depienne, Christel [23] ; Donnai, Dian [24] ; Dyment, David A. [25] ; Elpeleg, Orly [26] ; Faivre, Laurence [27] ; Gilissen, Christian [28] ; Granger, Leslie [29] ; Haber, Benjamin [30] ; Hachiya, Yasuo [31] ; Abedi, Yasmin Hamzavi [32] ; Hanebeck, Jennifer [33] ; Hehir-Kwa, Jayne Y. [34] ; Horist, Brooke [35] ; Itai, Toshiyuki [36] ; Jackson, Adam [37] ; Jewell, Rosalyn [38] ; Jones, Kelly L. [39] ; Joss, Shelagh [40] ; Kashii, Hirofumi [41] ; Kato, Mitsuhiro [42] ; Kattentidt-Mouravieva, Anja A. [43] ; Kok, Fernando [44] ; Kotzaeridou, Urania [45] ; Krishnamurthy, Vidya [46] ; Kucinskas, Vaidutis [47] ; Kuechler, Alma [48] ; Lavillaureix, Alinoe [49] ; Liu, Pengfei [50] ; Manwaring, Linda ; Matsumoto, Naomichi ; Mazel, Benoit ; McWalter, Kirsty ; Meiner, Vardiella ; Mikati, Mohamad A. ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Moey, Lip H. ; Mohammed, Shehla ; Mor-Shaked, Hagar ; Mountford, Hayley ; Newbury-Ecob, Ruth ; Odent, Sylvie ; Orec, Laura ; Osmond, Matthew ; Palculict, Timothy B. ; Parker, Michael ; Petersen, Andrea K. ; Pfundt, Rolph ; Preiksaitiene, Egle ; Radtke, Kelly ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Santiago-Sim, Teresa ; Schwager, Caitlin ; Sinnema, Margje ; Blok, Lot Snijders ; Spillmann, Rebecca C. ; Stegmann, Alexander P. A. ; Thiffault, Isabelle ; Linh Tran ; Vaknin-Dembinsky, Adi ; Vedovato-dos-Santos, Juliana H. ; Vergano, Samantha A. Schrier ; Vilain, Eric ; Vitobello, Antonio ; Wagner, Matias ; Waheeb, Androu ; Willing, Marcia ; Zuccarelli, Britton ; Kini, Usha ; Newbury, Dianne F. ; Kleefstra, Tjitske ; Reymond, Alexandre ; Fisher, Simon E. ; Vissers, Lisenka E. L. M. ; DDD Study
作者单位: Sch Med,Univ Kansas [1] Oxford Ctr Genom Med,Oxford Univ Hosp NHS Fdn Trust [2] Dept Biol & Med Sci,Oxford Brookes Univ [3] Dept Human Genet,Radboudumc [4] Ctr Integrat Genom,Univ Lausanne [5] Language & Genet Dept,Max Planck Inst Psycholinguist [6] Wellcome Sanger Inst [7] John Radcliffe Hosp,Univ Oxford [8] Sch Med,Univ Missouri [9] Fac Biol Med & Hlth,Univ Manchester [10] Serv Genet Med,Univ Hosp Geneva [11] Edmomd & Lilly Safra Pediat Hosp,Tel Aviv Univ [12] Inst Mol Med,Feinstein Inst Med Res [13] Genet Anomalies Dev,Univ Bourgogne Franche Comte [14] Inst Human Genet,Tech Univ Munich [15] Dept Genet,Kuala Lumpur Hosp [16] Fac Med,Vilnius Univ [17] Dept Psychiat,Univ Utah [18] Childrens Natl Hosp,George Washington Univ [19] Dept Clin Genet,Vannes Hosp [20] Univ Hosp Essen,Univ Duisburg Essen [21] Childrens Hosp Eastern Ontario Res Inst [22] Hadassah Med Ctr,Hebrew Univ Med Ctr [23] Randall Childrens Hosp,Legacy Emanuel Med Ctr [24] Ctr Paediat & Adolescent Med,Univ Hosp Heidelberg [25] Dept Neuropediat,Tokyo Metropolitan Neurol Hosp [26] Div Allergy & Immunol,Northwell Hlth [27] Princess Maxima Ctr Pediat Oncol [28] Pediat & Genet [29] Dept Human Genet,Yokohama City Univ [30] Yorkshire Reg Genet Serv,Chapel Allerton Hosp [31] Div Med Genet & Metab,Kings Daughters [32] West Scotland Ctr Genom Med,Queen Elizabeth Univ Hosp [33] Dept Pediat,Showa Univ [34] Zuidwester [35] Mendelics Genom Anal [36] Ctr Reference Malad Rares CLAD Ouest,Univ Rennes [37] GeneDx [38] Sheffield Clin Genet Serv,Sheffield Childrens Hosp [39] Clin Genom Dept,Ambry Genet [40] Dept Mol & Human Genet,Baylor Coll Med [41] Dept Clin Genet,Maastricht Univ Med Ctr AzM [42] Dept Pediat,Duke Univ [43] Div Pediat Neurol,Duke Univ [44] Fac Med,Hebrew Univ Jerusalem [45] Dept Genet,Penang Gen Hosp [46] Clin Genet,Guys Hosp [47] Dept Pediat,Washington Univ [48] Ctr Genet,Ctr Hosp Univ Dijon [49] St Michaels Hosp Bristol,Univ Hosp Bristol NHS Fdn Trust [50]
发布时间 2022-12-22
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