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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome

治疗性p63亚型转换可挽救AEC综合征的表皮缺陷

Di Girolamo, Daniela; Urciuoli, Gloria; Sol, Stefano; Ferniani, Marco; Antonini, Dario; Marchese, Emanuela; Palumbo, Sara; De Stefano, Maria Angela; Baltissen, Marijke P A; Ros, Marian A; Dixon, Jill; Hadj-Rabia, Smail; Missero, Caterina

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

A transcriptional program associated with neurotransmission in the living human brain

与活体人脑神经传递相关的转录程序

Charney, Alexander W; Liharska, Lora E; Vornholt, Eric; Valentine, Alissa; Lund, Anina; Hashemi, Alice; Thompson, Ryan C; Lohrenz, Terry; Johnson, Jessica S; Bussola, Nicole; Cheng, Esther; Park, You Jeong; Qasim, Salman; Aristel, Alisha; Wilkins, Lillian; Ziafat, Kimia; Silk, Hannah; Linares, Lisa M; Sullivan, Brendan; Feng, Claudia; Batten, Seth R; Bang, Dan; Barbosa, Leonardo S; Twomey, Thomas; White, Jason P; Vannucci, Marina; Hadj-Amar, Beniamino; Moya, Emily; Figee, Martijn; Nadkarni, Girish N; Breen, Michael S; Kishida, Kenneth T; Scarpa, Joseph; Schadt, Eric E; Saez, Ignacio; Montague, P Read; Beckmann, Noam D; Kopell, Brian H

Herpes simplex virus type 2 encephalitis in critically ill adults: A retrospective analysis of EURECA and Herpetics cohort studies

重症成人单纯疱疹病毒2型脑炎:EURECA和Herpetics队列研究的回顾性分析

Volpé, Thomas; Hassold, Nolan; de Montmollin, Etienne; Dupuis, Claire; Sarton, Benjamine; Guidet, Bertrand; Bruneel, Fabrice; Sazio, Charline; Chabanne, Russell; Brulé, Noelle; El Kalioubie, Ahmed; Alves, Mikael; Tadié, Jean-Marc; Citerio, Giuseppe; Helbok, Raimund; Horn, Janneke; Demeret, Sophie; Bailly, Pierre; Frérou, Aurélien; Ben Hadj Salem, Omar; Engrand, Nicolas; da Silva, Daniel; Timsit, Jean-François; Sonneville, Romain; Jaquet, Pierre

First-ever imported case of clade Ib Mpox in Senegal

塞内加尔出现首例输入性Ib分支痘病毒病例

Faye, Martin; Sow, Abdourahmane; Barry, Mamadou Aliou; Dieye, Papa Samba; Diop, Boly; Sall, Ndeye Codou; Diallo, Boubacar; Ngom, Serigne Fallou MBacké; Massaly, Aminata; Thiaw, Fatou Diène; Cisse, Viviane Marie Pierre; Boussiengui, Landry Gérard; Ka, Daye; Faye, Ousmane; Dia, NDongo; Seydi, Moussa; Mamadou Ndiaye, El Hadj; Fall, Ibrahima Socé

Genomic and Phenotypic Bases of Salt Tolerance in Sinorhizobium meliloti: Candidate Traits for Bioinoculant Development Addressing Saline Soils

根瘤菌耐盐性的基因组和表型基础:用于开发防治盐碱土壤的生物接种剂的候选性状

Bellabarba, Agnese; Fagorzi, Camilla; Bacci, Giovanni; Decorosi, Francesca; Checcucci, Alice; Pacini, Gaio Cesare; Bekki, Abdelkader; Mimoune, Amina El Hadj; Azim, Khalid; Hafidi, Majida; Mengoni, Alessio; Pini, Francesco; Viti, Carlo

Quantitative CT of emphysema, wall thickness and mucus plugs in alpha-1-antitrypsin deficiency: relationship to clinical outcomes

α1-抗胰蛋白酶缺乏症患者肺气肿、肺壁增厚和黏液栓的定量CT评估:与临床结局的关系

Dournes, Gaël; Hadj Bouzid, Amel Imene; Doucet, Klervi; Benlala, Ilyes; Maurac, Arnaud; Blanchard, Elodie; Dupin, Isabelle; Berger, Patrick; Henrot, Pauline; Zysman, Maeva

Genetic Insights Into Allergic Contact Dermatitis: Reassessing the Role of LCE3C_LCE3B Deletion

从遗传学角度深入了解过敏性接触性皮炎:重新评估 LCE3C_LCE3B 缺失的作用

Ben Lamine, Zeineb; Moussa, Amen; Bouhoula, Marwa; Gerisha, Razene; Sabbagh, Sarra; Kacem, Imen; Aloui, Asma; Chatti, Souheil; Brahem, Aicha; Zemni, Ramzi; Ben Hadj Slama, Foued

First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia

突尼斯家族性高胆固醇血症患者中首次发现LDLRAP1和复发性LDLR突变

Ncir, Wirath Ben; Ben-Mahmoud, Afif; Frikha, Hamdi; Abdelhedi, Fatma; Kacem, Faten Hadj; Majdoub, Nabila; Mnif, Mouna; Kim, Hyung-Goo; Keskes, Leila Ammar; Hottenga, Jouke-Jan