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

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

SLC32A1 中的新生错义变异因 GABA 能神经传递受损而导致发育性和癫痫性脑病

Konrad Platzer, Heinrich Sticht, Caleb Bupp, Mythily Ganapathi, Elaine M Pereira, Gwenaël Le Guyader, Frederic Bilan, Lindsay B Henderson, Johannes R Lemke, Holger Taschenberger, Nils Brose, Rami Abou Jamra #, Sonja M Wojcik #

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

DHX30 相关神经发育障碍的基因型-表型相关性和新分子见解

Ilaria Mannucci, Nghi D P Dang, Hannes Huber, Jaclyn B Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A Bindoff, Geir Julius Braathen, Øyvind L Busk, Jirat Chenbhanich

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

新发 SOX6 变异导致与 ADHD、颅缝早闭和骨软骨瘤相关的神经发育综合征

Dara Tolchin, Jessica P Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A Martinez-Agosto, Abdul Haseeb, Marco Angelozzi, G W E Santen, Claudia Ruivenkamp, Saadet Mercimek-Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann-Josef Ludecke, Frederic Bilan, Gwenael Le