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

Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022

关于罕见病新生儿基因筛查(gNBS)的偏好、态度和观点:2009年至2022年文献的系统综述和综合分析

Martin, Sylvia; Kyosovska-Peshtenska, Gergana; Audi, Jennifer; Zarakowska, Kaja; Grauman, Åsa; Veldwijk, Jorien; Hauber, Brett; Coulter, Joshua; Fürer, Aileen; Wagner, Alexandra; Piperkova, Aneta; Gross, Edith Sky; Knieling, Ferdinand; Gumus, Gulcin; Zak, Marek; Martinez-Fresno, Maria; Granados, Alicia; Sansen, Stefaan; Man, Yuen; Kirschner, Janbernd; Bruno, Lucia Pia; Bertini, Enrico Silvio; Ottombrino, Silvia; Novelli, Antonio; Agolini, Emanuele; Courbier, Sandra; Garnier, Nicolas; Jackson, Tsungai; Velinov, Branimir; Dubief, Jessie; Raming, Roman; Saier, Christina; Fortunato, Fernanda; Frankova, Vera; Hansson, Mats

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT:作为Screen4Care项目的一部分,用于新生儿基因组筛查的系统性和包容性基因选择过程。

Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease

对超过 30,000 名疑似患有庞贝病的有症状患者进行 GAA 的生化和基因检测

Balendran-Braun, Sukirthini; Vinatzer, Ursula; Liebmann-Reindl, Sandra; Lux, Manuela; Oliva, Petra; Sansen, Stefaan; Mechtler, Thomas; Kasper, David C; Streubel, Berthold

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

不让任何一位患者掉队!专家建议运用创新技术诊断罕见病

van Karnebeek, Clara D M; O'Donnell-Luria, Anne; Baynam, Gareth; Baudot, Anaïs; Groza, Tudor; Jans, Judith J M; Lassmann, Timo; Letinturier, Mary Catherine V; Montgomery, Stephen B; Robinson, Peter N; Sansen, Stefaan; Mehrian-Shai, Ruty; Steward, Charles; Kosaki, Kenjiro; Durao, Patricia; Sadikovic, Bekim

Patient preferences in genetic newborn screening for rare diseases: study protocol

患者对新生儿罕见病基因筛查的偏好:研究方案

Martin, Sylvia; Angolini, Emanuele; Audi, Jennifer; Bertini, Enrico; Bruno, Lucia Pia; Coulter, Joshua; Ferlini, Alessandra; Fortunato, Fernanda; Frankova, Vera; Garnier, Nicolas; Grauman, Åsa; Gross, Edith; Hauber, Brett; Hansson, Mats; Kirschner, Janbernd; Knieling, Ferdinand; Kyosovksa, Gergana; Ottombrino, Silvia; Novelli, Antonio; Raming, Roman; Sansen, Stefaan; Saier, Christina; Veldwijk, Jorien

Late-Onset Hemophagocytic Lymphohistiocytosis in a Lung Transplant Patient: A Case of T-Cell Post-Transplant Lymphoproliferative Disorder

肺移植患者迟发性噬血细胞性淋巴组织细胞增生症:一例T细胞移植后淋巴增殖性疾病

Leclercq, Charline; Sansen, Pierre-Yves; Collinge, Elodie; Thirionet, Robin; Evrard, Patrick; Planté-Bordeneuve, Thomas; Fervaille, Caroline; Pouplard, Marie; Dumonceaux, Michel; Sonet, Anne; Carlier, François M

Complete Remission in a TEMPI Syndrome Treated with a Daratumumab, Lenalidomide, and Dexamethasone-Based Regimen: A Case Report

达雷妥尤单抗、来那度胺和地塞米松联合方案治疗TEMPI综合征患者获得完全缓解:病例报告

Sansen, Pierre-Yves; Montfort, Luc; Nanquette, Anne; Depaus, Julien; Vellemans, Hélène

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

新生儿基因筛查和数字技术:一项基于双重方法的项目方案,旨在缩短欧洲罕见病的诊断路径。

Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Trad, Marie; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; Walther van Olden, Rudolf; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Gross, Edith; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda; Ferlini, Alessandra

Molecular Determinants for OMF Selectivity in Tripartite RND Multidrug Efflux Systems

三方RND多药外排系统中OMF选择性的分子决定因素

Boyer, Esther; Dessolin, Jean; Lustig, Margaux; Decossas, Marion; Phan, Gilles; Cece, Quentin; Durand, Grégory; Dubois, Véronique; Sansen, Joris; Taveau, Jean-Christophe; Broutin, Isabelle; Daury, Laetitia; Lambert, Olivier

A poly(thymine)-melamine duplex for the assembly of DNA nanomaterials

用于组装 DNA 纳米材料的聚(胸腺嘧啶)-三聚氰胺双链

Qian Li #, Jiemin Zhao #, Longfei Liu #, Sagun Jonchhe #, Felix J Rizzuto #, Shankar Mandal, Huawei He, Sansen Wei, Hanadi F Sleiman, Hanbin Mao, Chengde Mao