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

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

SMARCA5(染色质重塑因子)的致病变异可导致一系列综合征性神经发育特征

Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma Wakeling, Jane Hurst, Michael E March, Elizabeth J Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wal

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

NBAS 变异与 NK 和 B 细胞数量和质量缺陷有关

Dominic Lenz #, Jens Pahl #, Fabian Hauck #, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, 

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016

第 52 届儿科研究研讨会摘要:德国法兰克福。2016 年 10 月 27-28 日

Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gödde, Silvia Vogel, Frauke Schuster, Valerie Orth, Johannes Dörner, Daniel Pembaur, Meike Röper, Stefan Störkel, Hubert Zirngibl, Stefan Wirth, Andreas C W Jenke, Jan Postberg, Nikolas Boy, Jana Heringe