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

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

SMARCA4基因突变会导致人类耳硬化症,并在小鼠中产生类似的表型。

Max Drabkin,Matan M Jean,Yael Noy,Daniel Halperin,Yuval Yogev,Ohad Wormser,Regina Proskorovski-Ohayon,Vadim Dolgin,Noam Levaot,Vlad Brumfeld,Shira Ovadia,Mor Kishner,Udi Kazenell,Karen B Avraham,Ilan Shelef,Ohad S Birk

The paradoxical brain: paradoxes impact conflict perspectives through increased neural alignment

悖论大脑:悖论通过增强神经协调性影响冲突视角

Levy, Jonathan; Kluge, Annika; Hameiri, Boaz; Lankinen, Kaisu; Bar-Tal, Daniel; Halperin, Eran

Aryl hydrocarbon receptor restricts axon regeneration of DRG neurons in response to injury

芳烃受体抑制 DRG 神经元在损伤后轴突再生

Dalia Halawani, Yiqun Wang, Molly Estill, Arthur Sefiani, Aarthi Ramakrishnan, Jiaxi Li, Haofei Ni, Daniel Halperin, Li Shen, Cédric G Geoffroy, Roland H Friedel, Hongyan Zou

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

邻近的 NHEJ1 内含子内的 IHH 增强子变异导致小眼畸形、无眼畸形和眼缺损

Ohad Wormser #, Yonatan Perez #, Vadim Dolgin #, Bahman Kamali, Jared A Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y Birnbaum, Gidon Akler, Ohad S Birk

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

由 HMGCR 突变引起的肢带肌疾病和他汀类肌病可用甲瓦龙内酯治疗

Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk

Tdap vaccination in pregnancy

孕期接种百白破疫苗

Dalcin, Daniel; Halperin, Scott A

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

SCAPER 定位于初级纤毛,其突变影响纤毛长度,导致 Bardet-Biedl 综合征

Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir, Inna Goliand, Yair Sadka, Saad El Riati, Hagit Flusser, Dikla Nachmias, Ruth Birk, Muhamad Iraqi, Einat Kadar, Roni Gat, Max Drabkin, Daniel Halperin, Amir Horev, Sara Sivan, Uri Abdu, Natalie Elia, Ohad S Birk

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

影响细胞内锌稳态的SLC30A9突变导致新型脑肾综合征

Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

KY 纯合突变导致的进行性遗传性痉挛性截瘫

Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum

原发性弥漫性大B细胞淋巴瘤与复发/难治性弥漫性大B细胞淋巴瘤的比较分析揭示了突变谱的变化。

Greenawalt, Danielle M; Liang, Winnie S; Saif, Sakina; Johnson, Justin; Todorov, Petar; Dulak, Austin; Enriquez, Daniel; Halperin, Rebecca; Ahmed, Ambar; Saveliev, Vladislav; Carpten, John; Craig, David; Barrett, J Carl; Dougherty, Brian; Zinda, Michael; Fawell, Stephen; Dry, Jonathan R; Byth, Kate