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

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

在自闭症谱系障碍患者中发现了KDM5A的单等位基因和双等位基因变异。

El Hayek Lauretta, Gogate Ashlesha, Chen Wei-Chen, Kaur Kiran, Zaki Maha S, De Wachter Matthias, Van Schil Kristof, Dublin-Ryan Leeran, Zamani Mina, Bartos Meghan N, Hiatt Susan M, Courdier Cécile, Michaud Vincent, Kenny Janna, Day Michael, Pang Lewis, Nasab Mahya Ebrahimi, Madani Manshadi Seyed Ali, Eslahi Atieh, Rasoul Masoomeh Ale, Sanchez-Mendoza Eduardo Humberto, DeLuca Charles, Marafi Dana, Stevens Servi J C, Ivanovski Ivan, Frey Tanja, Steindl Katharina, Rauch Anita, O'Connor Kaitlyn, Velinov Milen, Shen Xiaoming, Janssen Etienne J M, Sedighzadeh Sahar, Kordi-Tamandani Dor Mohammad, Khajeh Ali, Elshafie Reem M, Bastaki Laila, Misra Vinod K, Firoozfar Zahra, Goldenberg Paula C, Toosi Mehran Beiraghi, Mojarrad Majid, Kavanagh Karl, Koboldt Daniel C, Margot Henri, Hurst Anna C E, Weber Axel, Bergmann Carsten, Houlden Henry, Maroofian Reza, Weis Denisa, Ceulemans Berten, Chahrour Maria H

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

阿米替林在携带KCNQ2/3功能获得性变异个体中的应用:一项回顾性队列研究

De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Møller, Rikke S; Bayat, Allan; Weckhuysen, Sarah

Characterization of Thin Polymer Layer Prepared from Liposomes and Polyelectrolytes for TGF-β(3) Release in Tissue Engineering.

脂质体和聚电解质制备的薄聚合物层在组织工程中释放 TGF-β(3) 的特性研究

Meier Nils, Berten-Schunk Leonie, Roger Yvonne, Hänsch Robert, Hoffmann Andrea, Bunjes Heike, Dempwolf Wibke, Menzel Henning

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

对神经发育障碍队列进行负担重新分析,以确定候选基因的优先顺序

Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E C; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A; Lalani, Seema R; Streff, Haley; Kooy, R Frank; Weckhuysen, Sarah

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

功能和临床研究揭示了CLCN4相关神经发育障碍的病理生理复杂性

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M; Sands, Tristan T; Wilson, Golder N; Silvertooth, Erin J; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H; Ockeloen, Charlotte W; Pfundt, Rolph; Kroft, Sanne D; Field, Michael; Laranjeira, Francisco E R; Fortuna, Ana M; Soares, Ana R; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D; Bird, Lynne M; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M; Blazo, Maria; Bijlsma, Emilia K; Rosenfeld, Jill A; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S; Armstrong, Ruth; Kalscheuer, Vera M

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

BRAT1脑病新生儿的临床和神经生理表型

Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F Lucy; Rowitch, David H; Solazzi, Roberta; Vercellino, Fabiana; De Liso, Paola; D'Onofrio, Gianluca; Boniver, Clementina; Danhaive, Olivier; Carkeek, Katherine; Salpietro, Vincenzo; Weckhuysen, Sarah; Fedrigo, Marny; Angelini, Annalisa; Castellotti, Barbara; Lederer, Damien; Benoit, Valerie; Raviglione, Federico; Guerrini, Renzo; Dilena, Robertino; Cilio, Maria Roberta

Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study

芬氟拉明可显著降低Lennox-Gastaut综合征患者的跌倒性癫痫发作频率:一项开放标签扩展研究的中期分析

Knupp, Kelly G; Scheffer, Ingrid E; Ceulemans, Berten; Sullivan, Joseph; Nickels, Katherine C; Lagae, Lieven; Guerrini, Renzo; Zuberi, Sameer M; Nabbout, Rima; Riney, Kate; Agarwal, Anupam; Lock, Michael; Dai, David; Farfel, Gail M; Galer, Bradley S; Gammaitoni, Arnold R; Polega, Shikha; Davis, Ronald; Gil-Nagel, Antonio

Filling Analytical Gaps in Allergen Detection─Real-Time PCR for the Detection of Commercially Relevant Cephalopods and Gastropods in Food

填补过敏原检测分析空白─实时 PCR 检测食品中商业相关头足类和腹足类动物

Vincent Blaschke, Alea Berten, Heike Sprenger, Jutta Zagon, Matthias Winkel

Release of TGF-β3 from Surface-Modified PCL Fiber Mats Triggers a Dose-Dependent Chondrogenic Differentiation of Human Mesenchymal Stromal Cells

表面改性 PCL 纤维垫释放 TGF-β3 可引发人类间充质基质细胞的剂量依赖性软骨发生分化

Leonie Berten-Schunk, Yvonne Roger, Heike Bunjes, Andrea Hoffmann

Pseudomonas aeruginosa in children with cerebral palsy: a prospective study

脑瘫患儿铜绿假单胞菌感染:一项前瞻性研究

Romaen, Katrien; Van Ussel, Isabelle; Van Rossem, Carolin; Kenis, Sandra; Ceulemans, Berten; Van Hoorenbeeck, Kim; Verhulst, Stijn