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

Exposures in Indoor Air Affecting Health

室内空气中的有害物质对健康的影响

Hartiala, Maria; Elenius, Varpu; Pesquera, Alicia Aguado; Androulakis, Silas; Annesi-Maesano, Isabella; Badyda, Artur; Brandsma, Sicco; Chatziprodromidou, Ioanna; Gajski, Goran; Garcia-Aymerich, Judith; Giorio, Chiara; Hugg, Timo; Jaakkola, Jouni J K; Koch, Sarah; Leonards, Pim E G; Matrali, Angeliki; Melymuk, Lisa; Mueller, Natalie; Muszyński, Adam; Opbroek, Jet; Paciência, Inês; Pandis, Spyros N; Pozdniakova, Sofya; Rantala, Aino K; Sufuentes, Sandra Rodríguez; Schenk, Linda; Sugeng, Eva; Sunyer-Caldú, Adrià; Vantarakis, Apostolos; Zherebker, Alexander; Alfaro-Moreno, Ernesto; Nizzetto, Pernilla Bohlin; Dominguez, José Fermoso; Karatzas, Stylianos; Mureddu, Francesco; Salonen, Heidi; Papadopoulos, Nikolaos; Jartti, Tuomas

Endocrine and metabolic determinants of cardiometabolic risk in mild autonomous cortisol secretion

轻度自主性皮质醇分泌患者的心血管代谢风险的内分泌和代谢决定因素

Prete, Alessandro; Abdi, Lida; Canducci, Marco; van den Brandhof, Elina L; Albors-Zumel, Ariadna; Jenkinson, Carl; Gilligan, Lorna C; Zhang, Yuanqing; Visser, Ludger; Chortis, Vasileios; Najdekr, Lukáš; Jankevics, Andris; Lloyd, Gavin R; Winder, Catherine L; Tsagarakis, Stylianos; Lang, Katharina; Macech, Magdalena; Fell, Vanessa; Vodanovic, Ivana D; Reimondo, Giuseppe; Marina, Ljiljana V; Deutschbein, Timo; Balomenaki, Maria; O'Reilly, Michael W; Bednarczuk, Tomasz; Dusek, Tina; Diamantopoulos, Aristidis; Asia, Miriam; Kondracka, Agnieszka; Yu, Kai; Masjkur, Jimmy R; Quinkler, Marcus; Ueland, Grethe Å; Dennedy, M Conall; Beuschlein, Felix; Tabarin, Antoine; Fassnacht, Martin; Ivovic, Miomira; Terzolo, Massimo; Kastelan, Darko; Young, William F Jr; Manolopoulos, Konstantinos N; Ambroziak, Urszula; Vassiliadi, Dimitra A; Bancos, Irina; Sitch, Alice J; Taylor, Angela E; Tino, Peter; Biehl, Michael; Dunn, Warwick B; Arlt, Wiebke

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Evidence for the earliest hominin use of wooden handheld tools found at Marathousa 1 (Greece)

在希腊马拉图萨1号遗址发现的最早人类使用木制手持工具的证据

Milks, Annemieke; Ntinou, Maria; Koutalis, Stylianos; Michailidis, Dimitrios; Konidaris, George E; Giusti, Domenico; Thompson, Nicholas; Tsartsidou, Georgia; Panagopoulou, Eleni; Tourloukis, Vangelis; Karkanas, Panagiotis; Harvati, Katerina

3D Quantification of Viral Transduction Efficiency in Living Human Retinal Organoids

活体人视网膜类器官中病毒转导效率的三维定量分析

Rogler, Teresa S; Salbaum, Katja A; Brinkop, Achim T; Sonntag, Selina M; James, Rebecca; Shelton, Elijah R; Thielen, Alina; Rose, Roland; Babutzka, Sabrina; Klopstock, Thomas; Michalakis, Stylianos; Serwane, Friedhelm

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

Safety and efficacy of intracardiac echocardiography in atrial fibrillation ablation: a meta-analysis

心内超声心动图在房颤消融术中的安全性和有效性:一项荟萃分析

Karakasis, Paschalis; Tzeis, Stylianos; Pamporis, Konstantinos; Vlachos, Konstantinos; Siontis, Konstantinos C; Antoniadis, Antonios P; Benali, Karim; Theofilis, Panagiotis; Tsiachris, Dimitrios; Chun, Julian K R; Jaïs, Pierre; Fragakis, Nikolaos

Lattice-tip vs. standard irrigated focal-tip catheter for radiofrequency ablation of the cavotricuspid isthmus - the LINEAR randomized trial

网格状尖端导管与标准灌注式聚焦尖端导管在腔三尖瓣峡部射频消融术中的比较——LINEAR随机试验

Tzeis, Stylianos; Asvestas, Dimitrios; Sousonis, Vasileios; Vavouris, Emmanouil; Karakasis, Paschalis; Charitos, Dimitrios; Karanikas, Stavros; Pamporis, Konstantinos; Vardas, Panos; Vlachos, Konstantinos

Adoption of Internet of Things in Health Care: Weighted and Meta-Analytical Review of Theoretical Frameworks and Predictors

物联网在医疗保健领域的应用:理论框架和预测因素的加权和荟萃分析综述

Oliveira, Tiago; Naranjo-Zolotov, Mijail; Martins, Ricardo; Karatzas, Stylianos