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

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

扩大双糖链相关 Meester-Loeys 综合征的临床谱

Josephina A N Meester #, Anne Hebert #, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

对疑似散发性先天性免疫缺陷患者进行基于三人的全外显子组测序:一项回顾性队列研究

Anne Hebert, Annet Simons, Janneke H M Schuurs-Hoeijmakers, Hans J P M Koenen, Evelien Zonneveld-Huijssoon, Stefanie S V Henriet, Ellen J H Schatorjé, Esther P A H Hoppenreijs, Erika K S M Leenders, Etienne J M Janssen, Gijs W E Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen,

Proper secretion of the serpin antithrombin relies strictly on thiol-dependent quality control.

丝氨酸蛋白酶抑制剂抗凝血酶的正常分泌严格依赖于硫醇依赖性质量控制

Adams Benjamin M, Ke Haiping, Gierasch Lila M, Gershenson Anne, Hebert Daniel N