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

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease

1型戈谢病合并肌萎缩侧索硬化症的发生

Oliveira, Lais M; Rastin, Tara; Nimmo, Graeme A M; Ross, Jay P; Dion, Patrick A; Zhang, Ming; Nevay, Dayna-Lynn; Arkadir, David; Gotkine, Marc; Barnett, Carolina; Shoesmith, Christen L; Zimran, Ari; Rogaeva, Ekaterina A; Zinman, Lorne; Rouleau, Guy A; Gan-Or, Ziv; Amato, Dominick; Kalia, Lorraine V

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

对未确诊疾病的成年人进行外显子组和基因组测序:一项前瞻性队列研究

Shickh, Salma; Gutierrez Salazar, Mariana; Zakoor, Kathleen-Rose; Lázaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arnon; Horsburgh, Sheri; Morar, Oana; Murphy, Jillian; Nevay, Dayna-Lynn; Szybowska, Marta; Aronson, Melyssa; Panchal, Seema; Godoy, Ruth; Holter, Spring; Randall Armel, Susan; Semotiuk, Kara; Elser, Christine; Kim, Raymond H; Chitayat, David; So, Joyce; Faghfoury, Hanna; Silver, Josh; Morel, Chantal F; Lerner-Ellis, Jordan