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

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

致病性GABRG2功能丧失和功能获得变异个体的表型谱

Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K

Investigating the role of urban vegetation alongside other environmental variables in shaping Aedes albopictus presence and abundance in Montpellier, France

调查城市植被及其他环境因素对法国蒙彼利埃白纹伊蚊出现和数量的影响

Bartholomée, Colombine; Taconet, Paul; Mercat, Mathilde; Grail, Coralie; Bouhsira, Emilie; Fournet, Florence; Moiroux, Nicolas

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

15q11-q13重复的群体筛查:证实母系遗传和父系遗传等位基因影响的差异

Parijs, Ilse; Brison, Nathalie; Vancoillie, Leen; Baetens, Machteld; Blaumeiser, Bettina; Boulanger, Sébastien; Désir, Julie; Dimitrov, Boyan; Fieremans, Nathalie; Janssens, Katrien; Janssens, Sandra; Marichal, Axel; Menten, Björn; Meunier, Colombine; Van Berkel, Kim; Van Den Bogaert, Ann; Devriendt, Koenraad; Van Den Bogaert, Kris; Vermeesch, Joris Robert

An unusual presentation of de novo RAC3 variation in prenatal diagnosis

产前诊断中RAC3新生变异的罕见表现

Meunier, Colombine; Cassart, Marie; Kostyla, Karole; Simonis, Nicolas; Monestier, Olivier; Tessier, Aude

Courtship behaviour reveals temporal regularity is a critical social cue in mouse communication

求偶行为表明,时间规律性是小鼠交流中一个至关重要的社会信号。

Perrodin, Catherine; Verzat, Colombine; Bendor, Daniel

Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

外显子组测序在产前诊断中的应用:机遇与挑战

Janicki, Ewa; De Rademaeker, Marjan; Meunier, Colombine; Boeckx, Nele; Blaumeiser, Bettina; Janssens, Katrien

Image-based deep learning reveals the responses of human motor neurons to stress and VCP-related ALS

基于图像的深度学习揭示了人类运动神经元对压力和VCP相关ALS的反应

Verzat, Colombine; Harley, Jasmine; Patani, Rickie; Luisier, Raphaëlle