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

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

一系列 mTOR 相关基因的变异与颅内容积和智力障碍有关

M R F Reijnders, M Kousi, G M van Woerden, M Klein, J Bralten, G M S Mancini, T van Essen, M Proietti-Onori, E E J Smeets, M van Gastel, A P A Stegmann, S J C Stevens, S H Lelieveld, C Gilissen, R Pfundt, P L Tan, T Kleefstra, B Franke, Y Elgersma, N Katsanis, H G Brunner

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression

严重进行性自闭症与两个新生变化有关:2.6 Mb 2q31.1 缺失和平衡 t(14;21)(q21.1;p11.2) 易位,以及 LRFN5 表达的长距离表观遗传沉默

D R H de Bruijn, A H A van Dijk, R Pfundt, A Hoischen, G F M Merkx, G A Gradek, H Lybæk, A Stray-Pedersen, H G Brunner, G Houge