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

Population-based, first-tier genomic newborn screening in the maternity ward

在产科病房开展基于人群的新生儿基因组筛查

Boemer, François; Hovhannesyan, Kristine; Piazzon, Flavia; Minner, Frédéric; Mni, Myriam; Jacquemin, Valérie; Mashhadizadeh, Davood; Benmhammed, Noor; Bours, Vincent; Jacquinet, Adeline; Harvengt, Julie; Bulk, Saskia; Dideberg, Vinciane; Helou, Laura; Palmeira, Leonor; Dangouloff, Tamara; Servais, Laurent

Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium

比利时一项关于早发性肥胖症队列中单基因病因的真实世界经验

Harvengt, Julie; Hannon, Muriel; Palmeira, Leonor; Lebrethon, Marie-Christine; Dideberg, Vinciane; Bours, Vincent

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia

纯合致病性MYH3变异与关节挛缩症和舌肌张力障碍相关

Mouraux, Charlotte; Fouquet, Claire; Durkin, Keith; Dideberg, Vinciane; Bulk, Saskia; Aktan, David; Artesi, Maria; Depierreux, Frédérique

Association between executive functions and COMT Val108/158Met polymorphism among healthy younger and older adults: A preliminary study

健康青年人和老年人执行功能与 COMT Val108/158Met 多态性之间的关联:一项初步研究

Apa, Zoltan; Gilsoul, Jessica; Dideberg, Vinciane; Collette, Fabienne

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

南非嗜铬细胞瘤-副神经节瘤患者中荷兰创始人SDHB外显子3缺失

Gordon, Debra M; Beckers, Pablo; Castermans, Emilie; Neggers, Sebastian J C M M; Rostomyan, Liliya; Bours, Vincent; Petrossians, Patrick; Dideberg, Vinciane; Beckers, Albert; Daly, Adrian F

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

比利时南部为期三年的脊髓性肌萎缩症新生儿筛查试点项目已正式启动。

Boemer, François; Caberg, Jean-Hubert; Beckers, Pablo; Dideberg, Vinciane; di Fiore, Samantha; Bours, Vincent; Marie, Sandrine; Dewulf, Joseph; Marcelis, Lionel; Deconinck, Nicolas; Daron, Aurore; Blasco-Perez, Laura; Tizzano, Eduardo; Hiligsmann, Mickaël; Lombet, Jacques; Pereira, Tatiana; Lopez-Granados, Lucia; Shalchian-Tehran, Sarvnaz; van Assche, Véronique; Willems, Arabelle; Huybrechts, Sofie; Mast, Bénédicte; van Olden, Rudolf; Dangouloff, Tamara; Servais, Laurent

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

参与针对罕见病的外部质量评估项目的频率:比利时人类遗传学中心指南

Lantoine, Joséphine; Brysse, Anne; Dideberg, Vinciane; Claes, Kathleen; Symoens, Sofie; Coucke, Wim; Benoit, Valérie; Rombout, Sonia; De Rycke, Martine; Seneca, Sara; Van Laer, Lut; Wuyts, Wim; Corveleyn, Anniek; Van Den Bogaert, Kris; Rydlewski, Catherine; Wilkin, Françoise; Ravoet, Marie; Fastré, Elodie; Capron, Arnaud; Vandevelde, Nathalie Monique

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

对卢旺达患有发育迟缓/智力障碍和多种先天性异常的患者进行阵列比较基因组杂交分析

Uwineza, Annette; Caberg, Jean-Hubert; Hitayezu, Janvier; Hellin, Anne Cecile; Jamar, Mauricette; Dideberg, Vinciane; Rusingiza, Emmanuel K; Bours, Vincent; Mutesa, Leon

Altered white matter architecture in BDNF met carriers

BDNF 携带者的白质结构发生改变

Erik Ziegler, Ariane Foret, Laura Mascetti, Vincenzo Muto, Anahita Le Bourdiec-Shaffii, Johan Stender, Evelyne Balteau, Vinciane Dideberg, Vincent Bours, Pierre Maquet, Christophe Phillips

Structure-based design of small peptide inhibitors of protein kinase CK2 subunit interaction

基于结构的设计蛋白激酶 CK2 亚基相互作用的小肽抑制剂

Béatrice Laudet, Caroline Barette, Vincent Dulery, Olivier Renaudet, Pascal Dumy, Alexandra Metz, Renaud Prudent, Alexandre Deshiere, Otto Dideberg, Odile Filhol, Claude Cochet