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

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

与伴侣蛋白环孢亲和素40的致病性变异相关的口吃

Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; Burrows, Emma L; Bennett, Mark F; Turner, Samantha J; Reilly, Sheena; Horton, Sarah E; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A; Featherby, Travis J; Richards, Kay L; Kueh, Andrew; Herold, Marco J; Corbett, Mark A; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G Y; Liégeois, Frédérique J; Morell, Robert J; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E; Wright, David K; Bahlo, Melanie; Hildebrand, Michael S

Glass-brain mapping provides an adjunct tool for structural analysis in mouse models of neurodevelopmental disease.

玻璃脑图谱为神经发育疾病小鼠模型的结构分析提供了一种辅助工具

Richards Kay, Coulthard Lachlan I, Rome Campbell, Collyer Taya A, Karle Timothy J, Beare Richard, Petrou Steven

Correction: The Brain-Specific Beta4 Subunit Downregulates BK Channel Cell Surface Expression

更正:脑特异性β4亚基下调BK通道细胞表面表达

Hill, Elisa L; Hosie, Suzanne; Mulligan, Rachel S; Richards, Kay L; Davies, Philip J; Dubé, Celine M; Baram, Tallie Z; Reid, Christopher A; Jones, Mathew V; Petrou, Steven; Shruti, Sonal; Urban-Ciecko, Joanna; Fitzpatrick, James A; Brenner, Robert; Bruchez, Marcel P; Barth, Alison L

Particulate matter in cigarette smoke alters iron homeostasis to produce a biological effect

香烟烟雾中的颗粒物会改变铁稳态,产生生物效应

Andrew J Ghio, Elizabeth D Hilborn, Jacqueline G Stonehuerner, Lisa A Dailey, Jacqueline D Carter, Judy H Richards, Kay M Crissman, Robert F Foronjy, Dale L Uyeminami, Kent E Pinkerton