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

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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

The impact of testosterone on paraventricular nucleus gene expression in male and female spontaneously hypertensive rats

睾酮对雄性和雌性自发性高血压大鼠室旁核基因表达的影响

Paterson, Alex; Loh, Su-Yi; Gholami, Shadi Kadijeh; Rogers, Mark F; Murugan, Dharmani Devi; Sau-Kuen, Lam; Mustafa, Mohammad Rais; Ott, Benjamin P; Balaratnam, Prusha; Mecawi, Andre S; Murphy, David; Hindmarch, Charles C T

Clinical characteristics of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

弥漫性特发性肺神经内分泌细胞增生的临床特征

O'Callaghan, Marissa; Forde, Sarah H; Franciosi, Alessandro N; Penugonda, Maitreyi; Diesler, Remi; O'Brien, Helen; Buikhuisen, Wieneke; Almeamar, Hussein; Samhouri, Bilal F; Ryu, Jay H; Veltkamp, Marcel; Manali, Effrosyni D; Lazaratou, Aggeliki; Papiris, Spyros A; Bonella, Francesco; Carr, Laurie; Cottin, Vincent; Taille, Camille; McCormack, Francis X; Gupta, Nishant; Strosberg, Jonathan; Lococo, Fillipo M; Harari, Sergio; Pelosi, Giuseppe; Papa, Riccardo; Bouros, Demosthenes; Kolilekas, Lykourgos; Daniil, Zoe; Dimeas, Ilias; Hernandez-Gonzalez, Fernanda; Sellares, Jacobo; Spagnolo, Paolo; Crowley, Rachel K; O' Toole, Dermot; O'Shea, Donal; Quinn, Sean; Murphy, David J; Fabre, Aurelie; Byrne, Adam J; Keane, Michael P; Fournel, Ludovic; McCarthy, Cormac

Effect of Liraglutide on Intermittent Hypoxia-Induced Metabolic Dysfunction: From Bench to Bedside

利拉鲁肽对间歇性缺氧诱导的代谢功能障碍的影响:从实验室到临床

O'Donnell, Cliona; King, Ailbhe; Vial, Guillaume; O'Neill, Emily; Crilly, Shane; Dodd, Jonathan D; Murphy, David J; Belaidi, Elise; Pepin, Jean-Louis; Arnaud, Claire; O'Shea, Donal; Ryan, Silke

Impact of invasive coronary function testing on management of ANOCA patients and secondary care resource utilisation: insights from a multicentre retrospective study in the UK

侵入性冠状动脉功能检查对ANOCA患者管理和二级医疗资源利用的影响:来自英国一项多中心回顾性研究的启示

Abramik, Joanna; Withers, Hannah; Murphy, David; Rodrigues, Jonathan Cl; Khavandi, Ali; Thompson, Dylan; Felekos, Ioannis; Carson, Kevin; Mariathas, Mark

First responder airway and compression rate cluster randomized controlled trial: rational and design

急救人员气道和按压频率整群随机对照试验:原理和设计

Rea, Thomas; Shin, Jenny; Blackwood, Jennifer; Counts, Catherine; Sharar, Sam; Murphy, David L; McCoy, Andrew; Latimer, Andrew; Johnson, Nicholas J; Kudenchuk, Peter J; Sayre, Michael; Brown, Siobhan; Schmicker, Robert; May, Susanne

Optimization, implementation, and performance of TMS coils with maximum focality and various stimulation depths

优化、实施和性能分析具有最大聚焦性和不同刺激深度的TMS线圈

Gomez, Luis J; Murphy, David L K; Koponen, Lari M; Hamdan, Rena; Li, Yiru; Wood, Eleanor; Golden, Jacob; Bukhari-Parlakturk, Noreen; Goetz, Stefan M; Peterchev, Angel V

Human-correlated genetic models identify precision therapy for liver cancer

人类相关遗传模型揭示肝癌的精准治疗方案

Miryam Müller ,Stephanie May # ,Holly Hall # ,Timothy J Kendall ,Lynn McGarry ,Lauriane Blukacz ,Sandro Nuciforo ,Anastasia Georgakopoulou ,Thomas Jamieson ,Narisa Phinichkusolchit ,Sandeep Dhayade ,Toshiyasu Suzuki ,Júlia Huguet-Pradell ,Ian R Powley ,Leah Officer-Jones ,Rachel L Pennie ,Roger Esteban-Fabró ,Albert Gris-Oliver ,Roser Pinyol ,George L Skalka ,Jack Leslie ,Matthew Hoare ,Joep Sprangers ,Gaurav Malviya ,Agata Mackintosh ,Emma Johnson ,Misti McCain ,John Halpin ,Christos Kiourtis ,Colin Nixon ,Graeme Clark ,William Clark ,Robin Shaw ,Ann Hedley ,Thomas M Drake ,Ee Hong Tan ,Matt Neilson ,Daniel J Murphy ,David Y Lewis ,Helen L Reeves ,John Le Quesne ,Derek A Mann ,Leo M Carlin ,Karen Blyth ,Josep M Llovet ,Markus H Heim ,Owen J Sansom ,Crispin J Miller ,Thomas G Bird

Melanocortin System Activates Carotid Body Arterial Chemoreceptors in Hypertension

黑皮质素系统激活高血压患者的颈动脉体动脉化学感受器

Pauza, Audrys G; Thakkar, Pratik; Shen, Xin; Felippe, Igor S A; Roßmann, Kilian; Oya, Manami; McBryde, Fiona D; Nakamura, Kazuhiro; Broichhagen, Johannes; Hodson, David J; Pauza, Dainius H; Murphy, David; Paton, Julian F R