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

Multi-omics investigation of thyroid development and dysfunction in down syndrome

唐氏综合征甲状腺发育和功能障碍的多组学研究

Lauffer, Peter; Zwaveling-Soonawala, Nitash; Li Yim, Andrew Y F; van der Laan, Liselot; van Zelderen-Bhola, Shama; Venema, Andrea M; Mul, Adri N; Bugiani, Marianna; Siteur-van Rijnstra, Esther; Gunst, Quinn D; van den Hoff, Maurice J B; de Bakker, Bernadette S; Boelen, Anita; Henneman, Peter; van Trotsenburg, A S Paul

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Cooperative Role of Mixed Solvent in the Evaporation-Induced Self-Assembly of Polypeptoid Nanocrystals

混合溶剂在聚肽纳米晶体蒸发诱导自组装中的协同作用

Luo, Xubo; Roncoroni, Fabrice; Yu, Tianyi; Li, Nan K; Zuckermann, Ronald N; Jiang, Xi; Balsara, Nitash P; Prendergast, David

Approach to the Patient: Challenging Cases of Pediatric Thyrotoxicosis

诊治方法:儿童甲状腺毒症疑难病例

Mooij, Christiaan F; Zwaveling-Soonawala, Nitash; Hillebrand, Jacquelien J; van Trotsenburg, A S Paul

Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start

新生儿先天性甲状腺功能减退症筛查:启动50年后,全球覆盖范围如何扩大

Arrigoni, Marta; Zwaveling-Soonawala, Nitash; LaFranchi, Stephen H; van Trotsenburg, A S Paul; Mooij, Christiaan F

Newborn screening for central congenital hypothyroidism: past, present and future

新生儿中枢性先天性甲状腺功能减退症筛查:过去、现在和未来

Garrelfs, Mark R; Mooij, Christiaan F; Boelen, Anita; van Trotsenburg, A S Paul; Zwaveling-Soonawala, Nitash

Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation

由一种新型嵌合型甲状腺激素受体β突变引起的对甲状腺激素的极度抵抗

van Geest, Ferdy S; Liao, Wenjun; Voorhoeve, Paul G; Leen, Willemijn G; Zwaveling-Soonawala, Nitash; Chatterjee, V Krishna; Van den Berg, Sjoerd A A; Verburg, Frederik A; Meima, Marcel E; van den Akker, Erica L T; Visser, W Edward

Universal Decentralized Cord Blood TSH Screening Should Be Offered as Routine Delivery Care in Limited-Resource Settings

在资源有限的环境中,应将普遍开展的脐带血促甲状腺激素(TSH)筛查作为常规分娩护理项目。

Zwaveling-Soonawala, Nitash; Virmani, Anju; Pulungan, Aman B; Haddad, Joseph; Boddu, Sirisha Kusuma; Darendeliler, Feyza; van Trotsenburg, A S Paul

Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis

生长激素治疗对六名患有骨硬化症的儿童的效果和安全性

Renes, Judith; Renes, Judith S; Sas, Theo C J; Clement-de Boers, Agnes; Zwaveling-Soonawala, Nitash; Hannema, Sabine E; van der Velden, Janiëlle A E M; van der Kaay, Daniëlle C M; Hokken-Koelega, Anita C S

Iodinated Contrast-Induced Hypothyroidism in An Infant after Enteral Contrast Enema: A Case-Report and Systematic Review

婴儿经肠内造影剂灌肠后发生碘造影剂诱发性甲状腺功能减退症:病例报告及系统评价

Pijpers, Adinda G H; Zoetelief, Sandra E; Eeftinck Schattenkerk, Laurens D; de Vries, Ralph; Onland, Wes; van Schuppen, Joost; van Trotsenburg, A S Paul; van Heurn, L W Ernest; Derikx, Joep P M; Zwaveling-Soonawala, Nitash; Mooij, Christiaan F