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

Identifying individual and organizational predictors of accidental exposure to blood (AEB) among hospital healthcare workers: A longitudinal study - ERRATUM

识别医院医护人员意外接触血液(AEB)的个体和组织预测因素:一项纵向研究 - 勘误

Bun, René Sosata; Aït Bouziad, Karim; Daouda, Oumou Salama; Miliani, Katiuska; Eworo, Anastasia; Espinasse, Florence; Seytre, Delphine; Casetta, Anne; Nérome, Simone; Temime, Laura; Hocine, Mounia N; Astagneau, Pascal

Seat Belt Aorta in a Paediatric Patient: Conservative Management with Eight Year Follow Up to Adulthood

儿童安全带主动脉损伤:保守治疗及长达八年的成年随访

Fourrier, Alice; Nasr, Bahaa; Hebert, Thomas; Espinasse, Benjamin

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

剪接因子SF1的杂合致病变异会导致多种神经发育障碍。

Bou-Rouphael, Johnny; Cospain, Auriane; Courtin, Thomas; Keren, Boris; Marie, Corentine; Lesieur-Sebellin, Marion; Heron, Delphine; de Sainte Agathe, Jean-Madeleine; Heide, Solveig; Lejeune, Elodie; Quelin, Chloe; Lecoquierre, François; Nizon, Mathilde; Isidor, Bertrand; Besnard, Thomas; Cogne, Benjamin; Latypova, Xenia; Levy, Jonathan; Joset, Pascal; Steindl, Katharina; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Thomas, Mary Ann; Abubakar, Amina; Lynch, Sally Ann; Müller, Amelie J; Haack, Tobias B; Zenker, Martin; Parker, Michael; Clossick, Emma; Spiller, Michael; Crookes, Renarta; Holder-Espinasse, Muriel; Bayat, Allan; Møller, Rikke S; Mieszczanek, Tomasz Stanislaw; de la Grange, Pierre; Buratti, Julien; Marijon, Pierre; Ataf, Sabir; Gavin, Ryan; Parras, Carlos; Hassan, Bassem A; Mignot, Cyril; El Khattabi, Laïla

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

Belumosudil in diffuse cutaneous systemic sclerosis: a randomized, double-blind, open-label extension, placebo-controlled, phase 2 study

Belumosudil治疗弥漫性皮肤系统性硬化症:一项随机、双盲、开放标签扩展、安慰剂对照的II期研究

Chung, Lorinda; Silver, Richard M; Steen, Virginia; Furst, Daniel E; Castelino, Flavia V; Trojanowski, Marcin; Spiera, Robert; Domsic, Robyn; Rodriguez-Pla, Alicia; Katsumoto, Tamiko R; Goulaouic, Helene; Wang, Hong; Espinasse, Melanie; El-Chemaly, Souheil; Wang, Rui

Amoeba plate test with Acanthamoeba castellanii as an innovative tool for Nocardia recovery from sputum samples: a proof-of-concept study

利用棘阿米巴(Acanthamoeba castellanii)进行变形虫平板试验作为从痰液样本中回收诺卡氏菌的创新工具:概念验证研究

Espinasse, Coralie; Descours, Ghislaine; Ibranosyan, Marine; Beraud, Laetitia; Ginevra, Christophe; Chastang, Joelle; Dumitrescu, Oana; Laurent, Frédéric; Rodriguez Nava, Verónica; Jarraud, Sophie; Allam, Camille

The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses

对结构正常的胎儿进行外显子组测序的挑战

Chandler, Natalie; Holder-Espinasse, Muriel; Mone, Fionnuala

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant

SPRED1致病变异体可观察到轴后多指畸形和出生后肺动脉狭窄

Gibbs, Alexander; Holder-Espinasse, Muriel; Ramachandran, Vijaya; Chandler, Natalie J

Potential association of TGFβ1 plasma levels and fibrinolysis parameters with the risk of recurrence and vascular obstruction after a first unprovoked pulmonary embolism episode.

TGFβ1 血浆水平和纤溶参数与首次不明原因肺栓塞发作后复发和血管阻塞风险的潜在关联

des Déserts Marc Danguy, de Moreuil Claire, Elhasnaoui Jamal, Gourhant Lenaïck, Gourdou-Latyszenok Virginie, Espinasse Benjamin, Menguy Juliette, Tromeur Cécile, Corre Rozenn Le, Mao Raphael Le, Kraemmer Daniel, Sanchez Olivier, Couturaud Francis, Lemarié Catherine A

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

GLUL 中聚集的从头启动丢失变异通过稳定谷氨酰胺合成酶导致发育性和癫痫性脑病

Amy G Jones, Matilde Aquilino, Rory J Tinker, Laura Duncan, Zandra Jenkins, Gemma L Carvill, Stephanie J DeWard, Dorothy K Grange, M J Hajianpour, Benjamin J Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I Esterhu