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

Characteristics of Adolescents With Uncontrolled Severe Asthma Starting Dupilumab: The PEDIASTHMA Registry

接受度普利尤单抗治疗的未控制重度哮喘青少年患者的特征:PEDIASTHMA 注册研究

Wanin, Stéphanie; Taam, Rola Abou; Chami, Lisa Giovannini; Marguet, Christophe; Just, Jocelyne; Da Silva, Christele; Msihid, Jérôme; Ledanois, Olivier; Gall, Rebecca; Sacks, Harry J; Jacob-Nara, Juby A; Daridon, Capucine; Deschildre, Antoine

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report

基于肝脾肿大和体格特征的I型黏多糖贮积症产前诊断:病例报告

Agranier, Maxime; Demurger, Florence; Dubourg, Christele; Fromageot, Jerome; Dufour, Anne-Sophie Cabaret; Launay, Erika; Gournay, Magalie; Lefèvre, Charles; Froissart, Roseline; Pettazzoni, Magali; Rollier, Paul

The Ottawa Mobile Screening Program-Concept and First 18 Months of Experience with a Community-Based Outreach Cardiovascular Prevention Program

渥太华移动筛查项目——理念及社区外展心血管预防项目前18个月的经验

Kelemen-Dagg, Katherine; Wong, Sandra; Emmerson, Haley; Coulton, Ruth; Milne, Ryan; Gauda, Roja; Opapeju, Ademola; Swar, Douaa; Large, Aimee; Kolupanowicz, Samantha; Kirkpatrick, Megan; Hill, Kaleki; Mullen, Kerri-Anne; Ferry, Christele; Thavorn, Kednapa; Small, Gary; Chan, Vincent; Justus, Donna; Oldland, Kelsey; Macdonald, Kate; Burwash, Ian G; Macphee, Erika; Birnie, David; Beanlands, Rob; Suc, Gaspard; Mesana, Thierry; Cross, Cindy; Messika-Zeitoun, David

Colo-colic intussusception secondary to a giant lipoma: A case report

巨大脂肪瘤继发结肠-结肠套叠:病例报告

Ibrahim, Karine; Lahoud, Christele; Lahoud, Rachele; Hachem, Kamal; Braidy, Chadi

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

GRIA3基因的功能获得性变异和功能丧失性变异会导致不同的神经发育表型。

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; Sully, Krystal; Murali, Chaya N; Burrage, Lindsay C; Plaud Gonzalez, Julie Ana; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jérémie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Mélanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Patron Romero, Leslie; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortüm, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Møller, Rikke S; Tümer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R; Shi, Yun Stone; Kristensen, Anders S

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

影响 STAGA 复合物成分 SUPT7L 的功能丧失变异会导致伴有全身脂肪营养障碍的发育障碍

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak #, Björn Fischer-Zirnsak #

2023 White Paper on Recent Issues in Bioanalysis: EU IVDR 2017/746 Implementation/Impact, IVD/CDx/CLIA Approved Assays, High Dimensional Cytometry, Multiplexing Technologies, LBA Tissue Analysis, Vaccine Study Endpoints, Cell-Based Assays for Biomarkers, Cell Therapy and Vaccines (PART 2 - Recommendations on Development & Validation of Biomarkers, IVD, CDx, Cell-Based, Flow Cytometry, Ligand-Binding and Enzyme Assays; Advanced Critical Reagents Strategies)

2023 年生物分析最新问题白皮书:欧盟 IVDR 2017/746 的实施/影响、体外诊断/伴随诊断/CLIA 批准的检测方法、高维细胞术、多重分析技术、LBA 组织分析、疫苗研究终点、用于生物标志物的细胞检测、细胞疗法和疫苗(第二部分 - 关于生物标志物、体外诊断、伴随诊断、细胞检测、流式细胞术、配体结合和酶检测的开发和验证的建议;先进关键试剂策略)

Kholmanskikh, Olga; Wang, Yow-Ming; Hersey, Sarah; Wadhwa, Meenu; Block, Katherine; Bandukwala, Abbas; Szapacs, Matthew; Weiner, Russell; Awwad, Khader; Dessy, Francis; Downing, Sean; Du, Xiulian; Garofolo, Fabio; Harris, Shannon; Hou, Victor; Jones, Jennifer; Kar, Sumit; Kinhikar, Arvind; Li, Ming; Mathews, Joel; Meissen, John; Sumner, Giane Oliveira; Pan, Luying; Sanderink, Gerard; Scully, Ingrid; Stanta, Johannes; Tanaka, Yoichi; Vauleon, Stephanie; Wagner, Leslie; Wang, Kai; Zhu, Liang; Eck, Steven; Lin, Yi-Dong; Azadeh, Mitra; Decman, Vilma; Diebold, Sandra; Du, Xiulian; Goihberg, Polina; Alcaide, Enrique Gomez; Gonneau, Christele; Hedrick, Michael Nathan; Hopkins, Gregory; Kar, Sumit; Loschko, Jakob; McCausland, Megan; Mendez, Luis; Sehra, Sarita; Stevens, Erin; Sun, Yongliang Steve; Tangri, Shabnam; Trampont, Paul C; Cludts, Isabelle; Dysinger, Mark; Kavita, Uma; Sugimoto, Hiroshi; Chilewski, Shannon; Grimaldi, Christine; Jiang, Yong; Kamerud, John; Liu, Susana; Owen, Carolina; Palackal, Nisha; Petit-Frere, Corinne; Pine, Samuel; Abhari, Mohsen Rajabi; Scheibner, Kara; Williams, LaKenya; Xu, Tao; Zhang, Guodong

New Scanographic Index for the Detection of Frailty in Patients with Cirrhosis with a Prognostic Impact

一种用于检测肝硬化患者虚弱程度并具有预后意义的新型扫描指数

El Khoueiry, Christele; Slim, Rita; Rida, Mohammad; Khoury, Bernard; Honein, Khalil; Smayra, Tarek; Yaghi, Cesar