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

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

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant

由 c.63G>T 变异引起的 Jagunal 同源物 1 (JAGN1) 缺乏症相关的表型变异

Pantea, Cristina-Loredana; Bataneant, Mihaela; Zimbru, Cristian G; Serban, Margit; Puiu, Maria; Chirita-Emandi, Adela

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders

与神经发育障碍相关的新生GABBR1和GABBR2变异的功能特征

Stawarski, Michal; Bielopolski, Noa; Roitman, Ilana; Fridman, Karen; Wald-Altman, Shane; Eitel, Megan; Hui, Benedict; Vulto-van Silfhout, Anneke; Stegmann, Alexander P A; Chirita-Emandi, Adela; Eason, Jacqueline; Bradshaw, Kirsty; Darnell, Lewis; Kostrzewa, Grażyna; Ploski, Rafal; Meurs, Romane; Batté, Amandine; Antonarakis, Stylianos E; Gassmann, Martin; Bettler, Bernhard

Light-based electron aberration corrector

基于光的电子像差校正器

Chirita Mihaila, Marius Constantin; Koutenský, Petr; Moriová, Kamila; Kozák, Martin

Ultrafast 4D Scanning Transmission Electron Microscopy for Imaging of Localized Optical Fields

用于局部光场成像的超快4D扫描透射电子显微镜

Koutenský, Petr; Streshkova, Neli Laštovičková; Moriová, Kamila; Chirita Mihaila, Marius Constantin; Knápek, Alexandr; Burda, Daniel; Kozák, Martin

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy

基因检测(包括基因组检测、外显子组检测和基因组测序)对罗马尼亚癫痫儿童的影响

Sabau, Iulia Maria; Bacos-Cosma, Iuliu Stefan; Streata, Ioana; Dragulescu, Bogdan; Puiu, Maria; Chirita-Emandi, Adela

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches

CCFDN中的CTDP1创始变异:对发病机制、表型谱和治疗方法的深入研究

Sabau, Iulia Maria; Chera, Alexandra; Ungureanu, Victor Gabriel; Cretu Stancu, Mircea; Chirita-Emandi, Adela; Wood, Matthew; Puiu, Maria; Bucur, Octavian

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing

通过基因组测序、外显子组测序和全基因组测序,分析罗马尼亚先天性免疫缺陷患儿的遗传图谱

Pantea, Cristina-Loredana; Bataneant, Mihaela; Zimbru, Cristian G; Dragulescu, Bogdan; Munteanu, Catalin Vasile; Chirita-Emandi, Adela

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

病例报告:一种由极其罕见的5q14.3q15区域新发拷贝数增加引起的神经发育障碍,表现为全面发育迟缓、小头畸形、眼部异常、汗液分泌失调和骨骼异常。

Serban, Costela Lacrimioara; Mihailescu, Alexandra; Miclea, Diana; Zimbru, Cristian G; Stoica, Florina; Chirita-Emandi, Adela

Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients

罗马尼亚成年患者扩张型心肌病的基因特征分析

Voinescu, Oana Raluca; Ionescu, Bogdana Ioana; Militaru, Sebastian; Afana, Andreea Sorina; Sascau, Radu; Vasiliu, Laura; Onciul, Sebastian; Dobrescu, Mihaela Amelia; Cozlac, Ramona Alina; Cozma, Dragos; Rancea, Raluca; Dragulescu, Bogdan; Andreescu, Nicoleta Ioana; Puiu, Maria; Jurcut, Ruxandra Oana; Chirita-Emandi, Adela