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

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

在患有西弗林-希茨-魏斯综合征的个体中发现了一种DNA甲基化谱。

Karimi, Karim; Lichtenstein, Yael; Reilly, Jack; McConkey, Haley; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; Bouman, Arjan; Symonds, Joseph D; Ghoumid, Jamal; Smol, Thomas; Clarkson, Katie; Drazba, Katy; Louie, Raymond J; Miranda, Valancy; McCann, Cathleen; Motta, Jamie; Lancaster, Emily; Sallevelt, Suzanne; Sidlow, Richard; Morrison, Jennifer; Hannibal, Mark; O'Shea, Jessica; Marin, Victor; Prasad, Chitra; Patel, Chirag; Raskin, Salmo; Maria-Noelia, Seco Moro; Diaz de Bustamante, Aranzazú; Marom, Daphna; Barkan, Tali; Keren, Boris; Poirsier, Celine; Cohen, Lior; Colin, Estelle; Gorman, Kathleen; Gallant, Emily; Menke, Leonie A; Valenzuela Palafoll, Irene; Hauser, Natalie; Wentzensen, Ingrid M; Rankin, Julia; Turnpenny, Peter D; Campeau, Philippe M; Balci, Tugce B; Tedder, Matthew L; Sadikovic, Bekim; Weiss, Karin

National Rapid Genome Sequencing in Neonatal Intensive Care

新生儿重症监护中的国家快速基因组测序

Marom, Daphna; Mory, Adi; Reytan-Miron, Sivan; Amir, Yam; Kurolap, Alina; Cohen, Julia Grinshpun; Morhi, Yocheved; Smolkin, Tatiana; Cohen, Lior; Zangen, Shmuel; Shalata, Adel; Riskin, Arieh; Peleg, Amir; Lavie-Nevo, Karen; Mandel, Dror; Chervinsky, Elana; Fisch, Clari Felszer; Fleisher Sheffer, Vered; Falik-Zaccai, Tzipora C; Rips, Jonathan; Shlomai, Noa Ofek; Friedman, Smadar Eventov; Shporen, Calanit Hershkovich; Ben-Yehoshua, Sagie Josefsberg; Simmonds, Aryeh; Yaacobi, Racheli Goldfarb; Bauer-Rusek, Sofia; Omari, Hussam; Weiss, Karin; Hochwald, Ori; Koifman, Arie; Globus, Omer; Batzir, Nurit Assia; Yaron, Naveh; Segel, Reeval; Morag, Iris; Reish, Orit; Eliyahu, Aviva; Leibovitch, Leah; Schwartz, Marina Eskin; Abramsky, Ramy; Hochberg, Amit; Oron, Anat; Banne, Ehud; Portnov, Igor; Samra, Nadra Nasser; Singer, Amihood; Baris Feldman, Hagit

Uncommon Presentation of Cystic Fibrosis: A Case Report and Literature Review

囊性纤维化的罕见表现:病例报告及文献综述

Abu Sirhan, Majed; Kalinin, Michael; Cohen, Lior; Gurevich, Evgenia

TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autism

TrackUSF是一种用于自动超声波发声分析的新工具,它揭示了自闭症大鼠模型中发生的异常叫声。

Netser, Shai; Nahardiya, Guy; Weiss-Dicker, Gili; Dadush, Roei; Goussha, Yizhaq; John, Shanah Rachel; Taub, Mor; Werber, Yuval; Sapir, Nir; Yovel, Yossi; Harony-Nicolas, Hala; Buxbaum, Joseph D; Cohen, Lior; Crammer, Koby; Wagner, Shlomo

Protein fluorescent labeling in live yeast cells using scFv-based probes

使用基于 scFv 的探针在活酵母细胞中进行蛋白质荧光标记

Ioannis Tsirkas, Tomer Zur, Daniel Dovrat, Amit Cohen, Lior Ravkaie, Amir Aharoni

HybridMouse: A Hybrid Convolutional-Recurrent Neural Network-Based Model for Identification of Mouse Ultrasonic Vocalizations

HybridMouse:一种基于混合卷积-循环神经网络的小鼠超声波发声识别模型

Goussha, Yizhaq; Bar, Kfir; Netser, Shai; Cohen, Lior; Hel-Or, Yacov; Wagner, Shlomo

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

CHD4相关综合征:临床表现、基因型-表型相关性及分子基础的全面研究

Weiss, Karin; Lazar, Hayley P; Kurolap, Alina; Martinez, Ariel F; Paperna, Tamar; Cohen, Lior; Smeland, Marie F; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D; Petrovich, Robert M; Schrier Vergano, Samantha A; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Līvija; Krock, Bryan; Skraban, Cara M; Zackai, Elaine H; Dubbs, Holly A; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D; Baris Feldman, Hagit; Campeau, Philippe M; Muenke, Maximilian; Wade, Paul A; Lachlan, Katherine

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

三例疑似KBG综合征患者存在SETD5基因单倍体功能不全

Crippa, Milena; Bestetti, Ilaria; Maitz, Silvia; Weiss, Karin; Spano, Alice; Masciadri, Maura; Smithson, Sarah; Larizza, Lidia; Low, Karen; Cohen, Lior; Finelli, Palma

Nonsense mutation-dependent reinitiation of translation in mammalian cells

哺乳动物细胞中无义突变依赖的翻译重新启动

Sarit Cohen, Lior Kramarski, Shahar Levi, Noa Deshe, Oshrit Ben David, Eyal Arbely