Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
阐明SETD1B相关综合征的分子和表型谱
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01246-2
Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan
