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

Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy

重新审视一种沉默变异:SGCA 在非典型心肌病中的作用

Horowitz-Cederboim, Smadar; Hoffman-Lipschuetz, Ronit; Durst, Ronen; Shpitzen, Shoshi; Shauer, Ayelet; Zwas, Donna R; Rosenbluh, Chaggai; Antman, Israel; Eilat, Avital; Harel, Tamar; Tomer, Orr; Meiner, Vardiella

Missing in action: the genetic mysteries of extremely low HDL cholesterol

失踪的杀手:极低高密度脂蛋白胆固醇的遗传之谜

Sphitzen, Shoshi; Golomb, Mordechai; Mowaswes, Mohammad; Bitzur, Refael; Horowitz Cederboim, Smadar; Leker, Ronen R; Gotkine, Marc; Chovers, Itai; Schurr, Daniel; Leitersdorf, Eran; Durst, Ronen

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

LRRC32基因(编码TGFβ受体)中的纯合终止密码子突变与腭裂、增殖性视网膜病变和发育迟缓相关。

Harel, Tamar; Levy-Lahad, Ephrat; Daana, Muhannad; Mechoulam, Hadas; Horowitz-Cederboim, Smadar; Gur, Michal; Meiner, Vardiella; Elpeleg, Orly