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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

CPX-351 in Down syndrome-associated myeloid leukemia: results and prognostic factors from the phase 3 ML-DS 2018 trial

CPX-351治疗唐氏综合征相关髓系白血病:3期ML-DS 2018试验的结果和预后因素

Laszig, Stephanie; Diederichs, Antonia; Salzmann-Manrique, Emilia; Schuschel, Konstantin; Gonçalves-Dias, José; Issa, Hasan; Miladinovic, Milica; Rettinger, Eva; Wehner, Sibylle; Kreyenberg, Hermann; Bremm, Melanie; Hünecke, Sabine; Kerp, Helena; Waack-Buchholz, Katharina; Thol, Felicitas; Goemans, Bianca F; De Moerloose, Barbara; Boztug, Heidrun; Scheidegger, Nastassja; Pawińska-Wąsikowska, Katarzyna; Reinhardt, Dirk; Klusmann, Jan-Henning

Engineering polymeric RNA scaffolds as programmable combinatorial innate immune agonists

将聚合物RNA支架工程化为可编程组合式先天免疫激动剂

Yang, Yinying; Alvarez, Andrew K; Wang, Wenxuan; Issa, Elias C D; Dorsey, Emily; Wu, Connie

Bidirectional coupling of neuronal Ca(2+) and nitric oxide signals visualized by a dual biosensor.

利用双生物传感器可视化神经元 Ca(2+) 和一氧化氮信号的双向耦合。

Aydeger Asel, Yildirim Sena, Caglar Tuba Akgul, Ghaffari Zaki Asal, Miri Seyed Mohammad, Armouch Joudi, Issa Hamzah, Yavuz Esranur, Kebapçı Arda, Koçak Mehmet, Malli Roland, Gressens Pierre, Plesnila Nikolaus, Eroglu Emrah

Mental Health Among Lebanese Refugees in Syria

叙利亚境内黎巴嫩难民的心理健康状况

Al-Bitar, Ahmad; Tellawi, Israa; Janoud, Omran; Al Issa, Kinda; Deeb, Haya; Fawaz, Hassan; Latifeh, Youssef

Transcatheter valve-in-valve versus redo-surgical valve replacement for mitral bioprosthetic valve dysfunction: rationale and design of the SURVIV randomised trial

经导管瓣中瓣置换术与再次外科瓣膜置换术治疗二尖瓣生物瓣膜功能障碍:SURVIV随机试验的理论基础和设计

Siqueira, Dimytri A; Abizaid, Alexandre A C; Ramos, Auristela A; Issa, Mario; Cervone, Alberto C; Bezerra, Cristiano G; de Araripe Falcão, Breno Alencar; Cortes, Leandro A; de Freitas C Guimarães, Leonardo; K São Thiago, Luiz Eduardo; Rezende, Mariana; Delamain, Tacianne Rolemberg; Togna, Dorival Della; Assef, Jorge E; Vilela, Andrea A; Paladino, Antonio Tito; Pinto, Ibraim M; Franchini, Kleber; Bhatt, Deepak L; Feres, Fausto

Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy

RPGR ORF15 变异导致 X 连锁视锥细胞营养不良的女性携带者的表型表现

Raji, Shabnam; MacLaren, Robert Edward; Charbel Issa, Peter; Cehajic-Kapetanovic, Jasmina

Emergent Carotid Stenting During Endovascular Therapy for Isolated Cervical Internal Carotid Artery Occlusion

孤立性颈内动脉闭塞血管内治疗期间紧急颈动脉支架置入术

Riegler, Christoph; Marto, João Pedro; Gebert, Pimrapat; Reiff, Tilman; Sykora, Marek; Wiącek, Marcin; Pakizer, David; Araújo, André; Schiphorst, Adrien Ter; Sousa, João André; Reich, Arno; Pina, Belen Flores; Mayer-Suess, Lukas; Hobeanu, Cristina; Zedde, Marialuisa; Ramos, João Nuno; Tsivgoulis, Georgios; Castro, Pedro; Poli, Sven; Alves, José Nuno; Dusart, Anne; Fuentes, Blanca; Meza, Herbert Tejada; Demeestere, Jelle; Wegener, Susanne; Kellert, Lars; Calleja, Patricia; Panea, Cristina; Vollmuth, Christoph; Pereira, Liliana; Leker, Ronen R; Uphaus, Timo; Zini, Andrea; Gensicke, Henrik; Duloquin, Gauthier; Ebrahimi, Taraneh; Salerno, Alexander; Tiu, Cristina; Nguyen, Thanh N; García-Madrona, Sebastian; Bilik, Marta; Yaghi, Shadi; Sienkiewicz-Jarosz, Halina; Karliński, Michał; Krebs, Stefan; Hurtíková, Eva; Ferreira, Nathalia; Sargento-Freitas, João; Pinho, João; Caamaño, Isabel Rodriguez; Gizewski, Elke Ruth; Seners, Pierre; Pascarella, Rosario; Psychogios, Klearchos; Exposito, Alexandra Gomez; Gomes, Sara; Bellante, Flavio; Rodríguez-Pardo, Jorge; Lacambra, Mario Bautista; Lemmens, Robin; Inauen, Corinne; Wischmann, Johannes; Ostos, Fernando; Tiu, Vlad; Haeusler, Karl Georg; Rodrigues, Miguel; Metanis, Issa; Hahn, Marianne; Viola, Maria Maddalena; Truessel, Simon; Bejot, Yannick; Nitsch, Louisa; Strambo, Davide; Terecoasa, Elena Oana; Abdalkader, Mohamad; De Felipe, Alicia; Khan, Farhan; Arquizan, Caroline; Ribeiro, Manuel; Roubec, Martin; Tomaszewska-Lampart, Izabella; Ferrari, Julia; Ringleb, Peter; Nolte, Christian H

Admission Systolic Blood Pressure and Outcomes After Endovascular Thrombectomy: An International EVA-TRISP Cohort Study

入院时收缩压与血管内血栓切除术后结局:一项国际EVA-TRISP队列研究

Wali, Nabila; Mumcuoglu, Abris D; Van Den Berg, Sophie A; Van Der Meij, Anne; Sajjad, Ayesha; Heldner, Mirjam Rachel; Marti, Christina C; Cimflova, Petra; Pilgram-Pastor, Sara Magdalena; Arnold, Marcel; Wegener, Susanne; Baazaoui, Hakim; Inauen, Corinne; Globas, Christoph; Nordanstig, Annika; Michel, Patrik; Kägi, Georg; Riegler, Christoph; Nolte, Christian H; Von Rennenberg, Regina; Curtze, Sami; Nybondas, Miranda; Martinez-Majander, Nicolas; Zini, Andrea; Forlivesi, Stefano; Paolucci, Matteo; Marto, João Pedro; Serôdio, Miguel; Carmo E Pinto, Inês; Pezzini, Alessandro; Cereda, Carlo W; Bigliardi, Guido; Vandelli, Gabriele; Padjen, Visnja; Svabic-Medjedovic, Tamara; Metanis, Issa; Leker, Ronen R; Van den Berg-Vos, R M; Engelter, Stefan T; Gensicke, Henrik; Nederkoorn, Paul J

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline