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

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

EGFLAM致病变异与先天性静止性夜盲症

Boranijasevic, Sanja; Smirnov, Vasily; Navarro, Julien; Tjon-Fo-Sang, Martha; Condroyer, Christel; Haer-Wigman, Lonneke; Antonio, Aline; Dhaenens, Claire-Marie; Verhoeven, Virginie J M; Sahel, José-Alain; van den Born, L Ingeborgh; Defoort, Sabine; Audo, Isabelle; Zeitz, Christina

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women

RPGRorf15纳米孔长读长测序技术可提高男性和女性视网膜色素变性的分子诊断率

Fabard, Manon; Devos, Aurore; Poncet, Anaïs F; Meneboo, Jean-Pascal; Figeac, Martin; Villenet, Céline; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; Meunier, Isabelle; Zanlonghi, Xavier; Grunewald, Olivier; Huin, Vincent; Lecigne, Claire; Smirnov, Vasily; Dhaenens, Claire-Marie

Multigenerational effects of uranium exposure reveal stronger testicular dysregulation in the second generation

铀暴露的多代效应表明,第二代睾丸功能紊乱更为严重。

Legendre, Audrey; Gloaguen, Céline; Kereselidze, Dimitri; Saci, Nawel; Murat El Houdigui, Sophia; Froment, Pascal; Elie, Christelle; Defoort, Catherine; Lestaevel, Philippe; Benadjaoud, Mohamed Amine; Souidi, Maâmar; Grison, Stéphane

Benign foveal retinal pigment epithelium hypopigmentation without functional loss : pediatric case series

良性黄斑视网膜色素上皮色素减退,无功能丧失:儿科病例系列

Boulert, Emilie; Drumare, Isabelle; Dhaenens, Claire-Marie; Defoort-Dhellemmes, Sabine; Smirnov, Vasily

Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less

CACNA2D4相关视网膜功能障碍的表型家族内变异性:或多或少

Smirnov, Vasily; Dhaenens, Claire-Marie; Canel, Vincent; Defoort-Dhellemmes, Sabine

Associations Among Handgrip Strength, Brain Pathology, and Cognition in Autosomal Dominant Alzheimer’s disease

握力、脑部病理和认知能力与常染色体显性遗传阿尔茨海默病之间的关联

Kroes, I; Janssens, S; Defoort, P; Ramirez-Perez, Nadeshka; Baena, Ana; Vasquez, Daniel; Martinez, Lusiana; Giudicessi, Averi; Ramirez Gomez, Liliana; Aguillon, David; Quiroz, Yakeel

Prolonged dysbiosis and altered immunity under nutritional intervention in a physiological mouse model of severe acute malnutrition

在严重急性营养不良的生理小鼠模型中,营养干预导致长期菌群失调和免疫力改变

Fanny Hidalgo-Villeda ,Matthieu Million ,Catherine Defoort ,Thomas Vannier ,Ljubica Svilar ,Margaux Lagier ,Camille Wagner ,Cynthia Arroyo-Portilla ,Lionel Chasson ,Cécilia Luciani ,Vincent Bossi ,Jean-Pierre Gorvel ,Hugues Lelouard ,Julie Tomas

Fluoroscopic and radiostereometric analysis of a bicruciate-retaining versus a posterior cruciate-retaining total knee arthroplasty: a randomized controlled trial

双交叉韧带保留型与后交叉韧带保留型全膝关节置换术的透视和放射立体测量分析:一项随机对照试验

Mills, Kelly; Wymenga, Ate B; Bénard, Menno R; Kaptein, Bart L; Defoort, Koen C; van Hellemondt, Gijs G; Heesterbeek, Petra J C

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

CNGB1相关视网膜色素变性伴嗅觉功能障碍综合征的多民族队列突变谱、眼部和嗅觉表型

Geada, Sara; Teixeira-Marques, Francisco; Teixeira, Bruno; Carvalho, Ana Luísa; Lousan, Nuno; Saraiva, Jorge; Murta, Joaquim; Silva, Rufino; Zanlonghi, Xavier; Defoort-Dhellemmes, Sabine; Smirnov, Vasily; Dhaenens, Claire-Marie; Blanchet, Catherine; Meunier, Isabelle; Marques, João Pedro

Ultralow-energy amorphization of contaminated silicon samples investigated by molecular dynamics

利用分子动力学研究受污染硅样品的超低能非晶化

Defoort-Levkov, Grégoire R N; Bahm, Alan; Philipp, Patrick