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

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Molecular basis of ClC-6 function and its impairment in human disease

ClC-6 功能的分子基础及其在人类疾病中的损伤

Bing Zhang, Sensen Zhang, Maya M Polovitskaya, Jingbo Yi, Binglu Ye, Ruochong Li, Xueying Huang, Jian Yin, Sebastian Neuens, Tom Balfroid, Julie Soblet, Daphné Vens, Alec Aeby, Xiaoling Li, Jinjin Cai, Yingcai Song, Yuanxi Li, Marco Tartaglia, Yang Li, Thomas J Jentsch, Maojun Yang, Zhiqiang Liu

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

先天性脑积水:新的孟德尔突变及寡基因遗传的证据

Jacquemin, Valerie; Versbraegen, Nassim; Duerinckx, Sarah; Massart, Annick; Soblet, Julie; Perazzolo, Camille; Deconinck, Nicolas; Brischoux-Boucher, Elise; De Leener, Anne; Revencu, Nicole; Janssens, Sandra; Moorgat, Stèphanie; Blaumeiser, Bettina; Avela, Kristiina; Touraine, Renaud; Abou Jaoude, Imad; Keymolen, Kathelijn; Saugier-Veber, Pascale; Lenaerts, Tom; Abramowicz, Marc; Pirson, Isabelle

Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy

卡马西平治疗SLC13A5癫痫严重电生理表现的疗效

Santalucia, Roberto; Vilain, Catheline; Soblet, Julie; De Laet, Corinne; Vuckovic, Aline; König, Jörg; Aeby, Alec

An exome-wide study of renal operational tolerance

肾脏手术耐受性的全外显子组研究

Massart, Annick; Danger, Richard; Olsen, Catharina; Emond, Mary J; Viklicky, Ondrej; Jacquemin, Valérie; Soblet, Julie; Duerinckx, Sarah; Croes, Didier; Perazzolo, Camille; Hruba, Petra; Daneels, Dorien; Caljon, Ben; Sever, Mehmet Sukru; Pascual, Julio; Miglinas, Marius; Pirson, Isabelle; Ghisdal, Lidia; Smits, Guillaume; Giral, Magali; Abramowicz, Daniel; Abramowicz, Marc; Brouard, Sophie

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

非近亲结婚和近亲结婚原发性小头畸形的表型和基因型:癫痫发病率高

Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François-Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lederer, Damien; Loeys, Bart; Meuwissen, Marije; Moortgat, Stéphanie; Mortier, Geert; Nassogne, Marie-Cécile; Sekhara, Tayeb; Van Coster, Rudy; Van Den Ende, Jenny; Van der Aa, Nathalie; Van Esch, Hilde; Vanakker, Olivier; Verhelst, Helene; Vilain, Catheline; Weckhuysen, Sarah; Passemard, Sandrine; Verloes, Alain; Aeby, Alec; Deconinck, Nicolas; Van Bogaert, Patrick; Pirson, Isabelle; Abramowicz, Marc

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

青春期延迟和原发性闭经的姐妹中 NOBOX 复合杂合无效突变

Asma Sassi, Julie Désir, Sarah Duerinckx, Julie Soblet, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Anne Delbaere

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

一例产前诊断为无脑回畸形伴小脑发育不全的病例:RELN基因新突变

Balza, Claire; Garofalo, Giulia; Cos, Teresa; Désir, Julie; Kang, Xin; Keymolen, Kathelijn; Soblet, Julie; Van Berkel, Kim; Vilain, Catheline; Ben Abbou, Wafa; Cassart, Marie

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

人类原发性小头畸形的双基因遗传模式区分了中心体途径和非中心体途径

Duerinckx, Sarah; Jacquemin, Valérie; Drunat, Séverine; Vial, Yoann; Passemard, Sandrine; Perazzolo, Camille; Massart, Annick; Soblet, Julie; Racapé, Judith; Desmyter, Laurence; Badoer, Cindy; Papadimitriou, Sofia; Le Borgne, Yann-Aël; Lefort, Anne; Libert, Frédérick; De Maertelaer, Viviane; Rooman, Marianne; Costagliola, Sabine; Verloes, Alain; Lenaerts, Tom; Pirson, Isabelle; Abramowicz, Marc

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

IQSEC2相关脑病在男性和女性中的比较研究:一项纳入37例新患者的研究

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn; Minassian, Berge A; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E H; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P; van der Smagt, Jasper J; van Hasselt, Peter M; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S; Lesca, Gaetan; Helbig, Katherine L; Nabbout, Rima; Verbeek, Nienke E; Depienne, Christel