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

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review

常染色体显性多囊肾病的分子遗传学诊断——系统性综述

Ciantar, Natalie; Said, Edith

International consensus recommendations on the diagnostic work-up for malformations of cortical development

关于皮质发育畸形诊断流程的国际共识建议

Oegema, Renske; Barakat, Tahsin Stefan; Wilke, Martina; Stouffs, Katrien; Amrom, Dina; Aronica, Eleonora; Bahi-Buisson, Nadia; Conti, Valerio; Fry, Andrew E; Geis, Tobias; Andres, David Gomez; Parrini, Elena; Pogledic, Ivana; Said, Edith; Soler, Doriette; Valor, Luis M; Zaki, Maha S; Mirzaa, Ghayda; Dobyns, William B; Reiner, Orly; Guerrini, Renzo; Pilz, Daniela T; Hehr, Ute; Leventer, Richard J; Jansen, Anna C; Mancini, Grazia M S; Di Donato, Nataliya

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

更正:DPH1综合征:在综合征患者中发现的两种新变异以及七个错义变异的结构和功能分析

Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A L; Plasencia, Guillem; Gelb, Bruce D; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D; Balcells, Susanna

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

DPH1 综合征:在综合征患者中发现的两种新变异以及七个错义变异的结构和功能分析

Urreizti Roser, Mayer Klaus, Evrony Gilad D, Said Edith, Castilla-Vallmanya Laura, Cody Neal A L, Plasencia Guillem, Gelb Bruce D, Grinberg Daniel, Brinkmann Ulrich, Webb Bryn D, Balcells Susanna

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

存活至围产期后,GLE1基因突变引起的表型会进一步扩展。

Said, Edith; Chong, Jessica X; Hempel, Maja; Denecke, Jonas; Soler, Paul; Strom, Tim; Nickerson, Deborah A; Kubisch, Christian; Bamshad, Michael J; Lessel, Davor

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

EPG5相关Vici综合征:一种伴有自噬缺陷的神经发育障碍范例

Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

KCNC1基因的复发性新生突变会导致进行性肌阵挛性癫痫

Muona Mikko, Berkovic Samuel F, Dibbens Leanne M, Oliver Karen L, Maljevic Snezana, Bayly Marta A, Joensuu Tarja, Canafoglia Laura, Franceschetti Silvana, Michelucci Roberto, Markkinen Salla, Heron Sarah E, Hildebrand Michael S, Andermann Eva, Andermann Frederick, Gambardella Antonio, Tinuper Paolo, Licchetta Laura, Scheffer Ingrid E, Criscuolo Chiara, Filla Alessandro, Ferlazzo Edoardo, Ahmad Jamil, Ahmad Adeel, Baykan Betul, Said Edith, Topcu Meral, Riguzzi Patrizia, King Mary D, Ozkara Cigdem, Andrade Danielle M, Engelsen Bernt A, Crespel Arielle, Lindenau Matthias, Lohmann Ebba, Saletti Veronica, Massano João, Privitera Michael, Espay Alberto J, Kauffmann Birgit, Duchowny Michael, Møller Rikke S, Straussberg Rachel, Afawi Zaid, Ben-Zeev Bruria, Samocha Kaitlin E, Daly Mark J, Petrou Steven, Lerche Holger, Palotie Aarno, Lehesjoki Anna-Elina

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