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

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

RFX 家族转录因子破坏会导致自闭症、注意力缺陷多动障碍、智力障碍和行为失调

Holly K Harris #, Tojo Nakayama #, Jenny Lai #, Boxun Zhao, Nikoleta Argyrou, Cynthia S Gubbels, Aubrie Soucy, Casie A Genetti, Victoria Suslovitch, Lance H Rodan, George E Tiller, Gaetan Lesca, Karen W Gripp, Reza Asadollahi, Ada Hamosh, Carolyn D Applegate, Peter D Turnpenny, Marleen E H Simon, Ca

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy

NUP214 致病变异导致核孔通道“堵塞”和急性发热性脑病

Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D Applegate, Yuval Salzberg, Tal Gilboa, Somaya Salah, Avraham Shaag, Natalia Simanovsky, Houriya Ayoubieh, Nara Sobreira, Giuseppe Punzi, Ciro Leonardo Pierri, Ada Hamosh, Orly Elpeleg, Amnon Harel, Simon Edvardson