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

Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin.

生成四种不同的同源细胞系,这些细胞系在 I 带或 A 带肌联蛋白中具有截短变体

Boen Hanne M, Vandendriessche Bert, Schippers Jolien, Rabaut Laura, Nijak-Paeske Aleksandra, Ponsaerts Peter, Van Craenenbroeck Emeline M, Loeys Bart, Alaerts Maaike

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

比利时人群中复发性KCNQ1变异体的临床和功能特征

Sieliwonczyk, Ewa; Alaerts, Maaike; Simons, Eline; Snyders, Dirk; Nijak, Aleksandra; Vandendriessche, Bert; Schepers, Dorien; Akdeniz, Dogan; Van Craenenbroeck, Emeline; Knaepen, Katleen; Rabaut, Laura; Heidbuchel, Hein; Van Laer, Lut; Saenen, Johan; Labro, Alain J; Loeys, Bart

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

对两例先天性脊椎骨骺发育不良 (SEDC) 患者进行 IPSC 重编程

Pauline De Kinderen, Laura Rabaut, Melanie H A M Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A N Meester, Aline Verstraeten

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)

对两例脊椎骨骺端发育不良患者进行 IPSC 重编程 (SEMD,双糖链蛋白聚糖类型)

Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A N Meester

Aligning Organizational Priorities and System Policies to Support Implementation Scale-Up of a Tailored Classroom-Based Physical Activity Intervention in Low-Resource Schools

调整组织优先事项和系统政策,以支持在资源匮乏的学校中扩大实施量身定制的课堂体育活动干预措施

Hasson, Rebecca E; Eisman, Andria B; Wassmann, Amy; Beemer, Lexie R; Templin, Thomas; Malinoff, Lynn; Zernicke, Ronald; Rabaut, Lisa

Rapid cycle adaptation of a classroom-based intervention to promote equity in access to youth physical activity

快速循环调整课堂干预措施,以促进青少年公平参与体育活动

Hasson, Rebecca E; Eisman, Andria B; Wassmann, Amy; Martin, Scott; Pugh, Pamela; Winkelseth, Kerry; Zernicke, Ronald; Rabaut, Lisa

Kiloh-Nevin Syndrome

基洛-内文综合征

Rabaut, Victor; VandeVyver, Vincent; Verstraete, Koenraad