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

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

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; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Protocol for a prospective study evaluating circulating tumour cells status to predict radical prostatectomy treatment failure in localised prostate cancer patients (C-ProMeta-1)

前瞻性研究方案,评估循环肿瘤细胞状态以预测局限性前列腺癌患者根治性前列腺切除术治疗失败率(C-ProMeta-1)

Tarek Al-Hammouri #, Ricardo Almeida-Magana #, Rachel Lawrence, Tom Duffy, Laura White, Edwina Burke, Sakunthala Kudahetti, Justin Collins, Prabhakar Rajan, Daniel Berney, Rhian Gabe, Greg Shaw, Yong-Jie Lu

Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis

连接蛋白表达失调在银屑病中起着关键作用

Erin M O'Shaughnessy, William Duffy, Laura Garcia-Vega, Keith Hussey, A David Burden, Mozheh Zamiri, Patricia E Martin

Scale-Up Technologies for the Manufacture of Adherent Cells

用于生产贴壁细胞的规模化技术

Bellani, Caroline Faria; Ajeian, Jila; Duffy, Laura; Miotto, Martina; Groenewegen, Leo; Connon, Che J

A patient-centred model to quality assure outputs from an echocardiography department: consensus guidance from the British Society of Echocardiography

以患者为中心的超声心动图科质量保证模式:英国超声心动图学会共识指南

Ingram, Thomas E; Baker, Steph; Allen, Jane; Ritzmann, Sarah; Bual, Nina; Duffy, Laura; Ellis, Chris; Bunting, Karina; Black, Noel; Peck, Marcus; Hothi, Sandeep S; Sharma, Vishal; Pearce, Keith; Steeds, Richard P; Masani, Navroz

Inaugural osher integrative medicine research forum: an overview

首届奥舍尔综合医学研究论坛:概述

Mittelman, Michele; Duffy, Laura

Microglia in close vicinity of glioma cells: correlation between phenotype and metabolic alterations

胶质瘤细胞附近的微胶质细胞:表型与代谢改变的相关性

Voisin, Pierre; Bouchaud, Véronique; Merle, Michel; Diolez, Philippe; Duffy, Laura; Flint, Kristian; Franconi, Jean-Michel; Bouzier-Sore, Anne-Karine