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

Negotiating the Gerontological Uncanny and Passing Tactics for Aging in Place

应对老年学的怪诞之处及居家养老的应对策略

Gerber, Sylvie; Bonneau, Dominique; Gilbert, Brigitte; Munnich, Arnold; Dufier, Jean-Louis; Rozet, Jean-Michel; Kaplan, Josseline; Yeh, Jarmin; Fox, Pat; Vlahov, David; Pinderhughes, Howard

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

靶向重测序确定 PTCH1 是眼部发育异常的主要诱因,并扩展了 SOX2 调控网络

Nicolas Chassaing, Erica E Davis, Kelly L McKnight, Adrienne R Niederriter, Alexandre Causse, Véronique David, Annaïck Desmaison, Sophie Lamarre, Catherine Vincent-Delorme, Laurent Pasquier, Christine Coubes, Didier Lacombe, Massimiliano Rossi, Jean-Louis Dufier, Helene Dollfus, Josseline Kaplan, Ni

Benefit of bi-ocular visual stimulation for postural control in children with strabismus

双眼视觉刺激对斜视儿童姿势控制的益处

Gaertner, Chrystal; Creux, Charlotte; Espinasse-Berrod, Marie-Andrée; Orssaud, Christophe; Dufier, Jean-Louis; Kapoula, Zoï

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

TMEM126A基因编码一种线粒体蛋白,该基因突变会导致常染色体隐性非综合征型视神经萎缩。

Hanein, Sylvain; Perrault, Isabelle; Roche, Olivier; Gerber, Sylvie; Khadom, Noman; Rio, Marlene; Boddaert, Nathalie; Jean-Pierre, Marc; Brahimi, Nora; Serre, Valérie; Chretien, Dominique; Delphin, Nathalie; Fares-Taie, Lucas; Lachheb, Sahran; Rotig, Agnès; Meire, Françoise; Munnich, Arnold; Dufier, Jean-Louis; Kaplan, Josseline; Rozet, Jean-Michel

Eight previously unidentified mutations found in the OA1 ocular albinism gene

在OA1眼白化病基因中发现了八个先前未知的突变

Mayeur, Hélène; Roche, Olivier; Vêtu, Christelle; Jaliffa, Carolina; Marchant, Dominique; Dollfus, Hélène; Bonneau, Dominique; Munier, Francis L; Schorderet, Daniel F; Levin, Alex V; Héon, Elise; Sutherland, Joanne; Lacombe, Didier; Said, Edith; Mezer, Eedy; Kaplan, Josseline; Dufier, Jean-Louis; Marsac, Cécile; Menasche, Maurice; Abitbol, Marc

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

PITX2基因内缺失导致Axenfeld-Rieger综合征的首例鉴定:病例报告

de la Houssaye, Guillaume; Bieche, Ivan; Roche, Olivier; Vieira, Véronique; Laurendeau, Ingrid; Arbogast, Laurence; Zeghidi, Hatem; Rapp, Philippe; Halimi, Philippe; Vidaud, Michel; Dufier, Jean-Louis; Menasche, Maurice; Abitbol, Marc

Persisting reversed clock syndrome

持续性生物钟倒置综合征

Orssaud, Christophe; Halimi, Philippe; Le Jeunne, Claire; Dufier, Jean Louis

Mapping of a congenital microcoria locus to 13q31-q32

先天性小角膜基因位点定位至13q31-q32

Rouillac, C; Roche, O; Marchant, D; Bachner, L; Kobetz, A; Toulemont, P J; Orssaud, C; Urvoy, M; Odent, S; Le Marec, B; Abitbol, M; Dufier, J L

Congenital toxoplasma chorioretinitis transmitted by preconceptionally immune women

先天性弓形虫脉络膜视网膜炎由孕前免疫女性传播

Dollfus, H; Dureau, P; Hennequin, C; Uteza, Y; Bron, A; Dufier, J L

Contribution to carrier detection and genetic counselling in X linked retinoschisis

对X连锁视网膜劈裂症携带者检测和遗传咨询的贡献

Kaplan, J; Pelet, A; Hentati, H; Jeanpierre, M; Briard, M L; Journel, H; Munnich, A; Dufier, J L