日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

对患有严重发育障碍的儿童进行基因诊断后的大规模结果评估

Copeland, Harriet; Low, Karen J; Wynn, Sarah L; Ahmed, Ayesha; Arthur, Victoria; Balasubramanian, Meena; Bennett, Katya; Berg, Jonathan; Bertoli, Marta; Bryson, Lisa; Bucknall, Catrin; Campbell, Jamie; Chandler, Kate; Chauhan, Jaynee; Clarkson, Amy; Coles, Rachel; Conti, Hector; Costello, Philandra; Coupar, Tessa; Craig, Amy; Dean, John; Dillon, Amy; Dixit, Abhijit; Drew, Kathryn; Eason, Jacqueline; Forzano, Francesca; Foulds, Nicola; Gardham, Alice; Ghali, Neeti; Green, Andrew; Hanna, William; Harrison, Rachel; Hegarty, Mairead; Higgs, Jenny; Holder, Muriel; Irving, Rachel; Jain, Vani; Johnson, Katie; Jolley, Rachel; Jones, Wendy D; Jones, Gabriela; Joss, Shelagh; Kalinauskiene, Ruta; Kanani, Farah; Kavanagh, Karl; Khan, Mahmudur; Khan, Naz; Kivuva, Emma; Lahiri, Nayana; Lakhani, Neeta; Lampe, Anne; Lynch, Sally Ann; Mansour, Sahar; Marsden, Alice; Massey, Hannah; McKee, Shane; Mohammed, Shehla; Naik, Swati; Nesarajah, Mithushanaa; Newbury-Ecob, Ruth; Osborne, Fiona; Parker, Michael J; Patterson, Jenny; Pottinger, Caroline; Prapa, Matina; Prescott, Katrina; Quinn, Shauna; Radley, Jessica A; Robart, Sarah; Ross, Alison; Rosti, Giulia; Sansbury, Francis H; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Shears, Debbie; Smithson, Sarah; Stewart, Helen; Suri, Mohnish; Tadros, Shereen; Theobald, Rachel; Thomas, Rhian; Tsoulaki, Olga; Vasudevan, Pradeep; Rodriguez, Maribel Verdesoto; Vittery, Emma; Whyte, Sinead; Woods, Emily; Wright, Thomas; Zocche, David; Firth, Helen V; Wright, Caroline F