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

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

HNRNPC 单倍体不足会影响智力障碍相关基因的选择性剪接,并导致神经发育障碍

Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma, Jennifer Bain, Meena Balasubramanian, Siddharth Banka, Paul J Benke, Miriam Bertrand, Alyssa E Blesson, Jill Clayton-Smith, Jamie M

Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis

识别导致 TSC 相关癫痫发生的暂时电生理和分子变化

Linda Mc Koene, Eva Niggl, Ilse Wallaard, Martina Proietti-Onori, Diana C Rotaru, Ype Elgersma

Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms

非同源异构体促进了人类和小鼠之间 UBE3A 亚细胞分布的保守性

F Isabella Zampeta, Monica Sonzogni, Eva Niggl, Bas Lendemeijer, Hilde Smeenk, Femke M S de Vrij, Steven A Kushner, Ben Distel, Ype Elgersma

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

超越外显子组:非编码基因组和增强子在神经发育障碍和皮质发育畸形中的作用

Perenthaler, Elena; Yousefi, Soheil; Niggl, Eva; Barakat, Tahsin Stefan

Laparoscopic Pectopexy: A Biomechanical Analysis

腹腔镜下耻骨固定术:生物力学分析

Sauerwald, A; Niggl, M; Puppe, J; Prescher, A; Scaal, M; Noé, G K; Schiermeier, S; Warm, M; Eichler, C

Eliminating HIV & AIDS in India: A roadmap to zero new HIV infections, zero discrimination & zero AIDS-related deaths

在印度消除艾滋病毒和艾滋病:实现零新增艾滋病毒感染、零歧视和零艾滋病相关死亡的路线图

Palchaudhuri, Riya; Niggl, Max; Palmer, Clovis Steve