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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Dynamics of complete responses (CRs) in patients with relapsed or refractory follicular lymphoma (R/R FL) treated with odronextamab in the ELM-2 study

ELM-2 研究中接受 odronextamab 治疗的复发或难治性滤泡性淋巴瘤 (R/R FL) 患者的完全缓解 (CR) 动态变化

Luminari, Stefano; Jiménez-Ubieto, Ana; Chong, Geoffrey; Tucker, David; Ambati, Srikanth; Lin, Chinjune; Mohamed, Hesham; Brouwer-Visser, Jurriaan; Otele, Chetachi Akunna; Antico, Giovanni; Villasboas, Jose C

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Executive Summary of ASN Kidney Health Guidance on Conservative Management in People with Kidney Failure

美国肾脏病学会(ASN)关于肾衰竭患者保守治疗的肾脏健康指南执行摘要

Weiss, Jessica W; Hall, Rasheeda; Saeed, Fahad; Callahan, Mary Beth; Shaban, Hesham

Outcomes of Witnessed Versus Unwitnessed Patients With Stroke After Endovascular Therapy in the Extended Time Window

在延长的时间窗内,有目击者与无目击者卒中患者接受血管内治疗后的预后比较

Tomppo, Liisa; Martinez-Majander, Nicolas; Qureshi, Muhammad M; Nguyen, Thanh N; Nogueira, Raul G; Nagel, Simon; Demeestere, Jelle; Puetz, Volker; Henon, Hilde; Olive-Gadea, Marta; Marto, João Pedro; Dusart, Anne; Ringleb, Peter A; Zaidat, Osama O; Haussen, Diogo C; Mohammaden, Mahmoud H; Abdalkader, Mohamad; Raymond, Jean; Ortega-Gutierrez, Santiago; Sheth, Sunil A; Yamagami, Hiroshi; Ramos, João Nuno; Caparros, Francois; Kaiser, Daniel P O; Ribo, Marc; Salazar-Marioni, Sergio; Tanaka, Kanta; Virtanen, Pekka; Puri, Ajit S; Siegler, James E; Zaidi, Syed F; Jumaa, Mouhammad; Lin, Eugene; Mayol, Jordi; Ventura, Rita; Winzer, Simon; Klein, Piers; Bellante, Flavio; Cespedes, Jorge; Wouters, Anke; Masoud, Hesham E; Shu, Liqi; Castonguay, Alicia C; Herweh, Christian; Cheng, Monica; Hu, Wei; Roy, Daniel; Yaghi, Shadi; Lemmens, Robin; Cordonnier, Charlotte; Möhlenbruch, Markus A; Strbian, Daniel

Mapping adaptive immune responses toward fungal antigens in inflammatory bowel disease using T cell repertoire sequencing and phage-immunoprecipitation sequencing

利用T细胞库测序和噬菌体免疫沉淀测序技术绘制炎症性肠病中针对真菌抗原的适应性免疫反应图谱

Mahdy, Aya K H; ElAbd, Hesham; Prinzensteiner, Melanie; Jebens, Hannah; Sivickis, Kostas; Bacher, Petra; Vogl, Thomas; Poyet, Mathilde; Franke, Andre

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Comparative Effectiveness of Disease-Modifying Treatments in Double Seronegative Neuromyelitis Optica Spectrum Disorder

双血清阴性视神经脊髓炎谱系障碍疾病修饰疗法的比较疗效

Mahler, Joao Vitor; Vallejos, Gerome B; Mikami, Takahisa; Bilodeau, Philippe A; Anderson, Monique; Drosu, Natalia; Bobrowski-Khoury, Natasha; Silva, Guilherme Diogo; Solti, Marina; Apóstolos-Pereira, Samira Luisa; Callegaro, Dagoberto; Leles Vieira de Souza, Bruna; Manzano, Giovanna Sophia; Vishnevetsky, Anastasia; Gillani, Rebecca; Pasquale, Olivia; Kim, Angie; Vij, Raveena; Kister, Ilya; Gibbons, Emily L; Jacob, Anu; Huda, Saif; Said, Yana; Krett, Jonathan D; Sotirchos, Elias S; Ramprasad, Manisha; Abboud, Hesham; Crelier, Viviane Tavares Carvalho; Dos Santos, Gutemberg; Uawithya, Ekdanai; Siritho, Sasitorn; Sezen, Ahmetcan; Altintas, Ayse; Gai, Feng; Guo, Yanjun; Bhattacharyya, Shamik; Levy, Michael; Matiello, Marcelo

Comparative Effectiveness of Disease-Modifying Treatments in Double Seronegative Neuromyelitis Optica Spectrum Disorder

双血清阴性视神经脊髓炎谱系障碍疾病修饰疗法的比较疗效

Mahler, Joao Vitor; Vallejos, Gerome B; Mikami, Takahisa; Bilodeau, Philippe A; Anderson, Monique; Drosu, Natalia; Bobrowski-Khoury, Natasha; Silva, Guilherme Diogo; Solti, Marina; Apóstolos-Pereira, Samira Luisa; Callegaro, Dagoberto; Leles Vieira de Souza, Bruna; Manzano, Giovanna Sophia; Vishnevetsky, Anastasia; Gillani, Rebecca; Pasquale, Olivia; Kim, Angie; Vij, Raveena; Kister, Ilya; Gibbons, Emily L; Jacob, Anu; Huda, Saif; Said, Yana; Krett, Jonathan D; Sotirchos, Elias S; Ramprasad, Manisha; Abboud, Hesham; Crelier, Viviane Tavares Carvalho; Santos, Gutemberg Dos; Uawithya, Ekdanai; Siritho, Sasitorn; Sezen, Ahmetcan; Altintas, Ayse; Gai, Feng; Guo, Yanjun; Bhattacharyya, Shamik; Levy, Michael; Matiello, Marcelo