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

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

与 ALS 相关的 SPTLC1 变体通过与 ORMDL 蛋白的相互作用受损产生不同的鞘脂特征

Museer A Lone, Mari J Aaltonen, Aliza Zidell, Helio F Pedro, Jonas A Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G Bönnemann, Eric A Shoubridge, Thorsten Hornemann

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

IGSF1 缺乏症可能表现为游离 T4 水平正常、严重肥胖或睾丸过早发育

Ghanny, Steven; Zidell, Aliza; Pedro, Helio; Joustra, Sjoerd D; Losekoot, Monique; Wit, Jan M; Aisenberg, Javier

Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients

一项针对新确诊乳腺癌患者的主动快速遗传咨询与常规护理的随机试验

Schwartz, Marc D; Peshkin, Beth N; Isaacs, Claudine; Willey, Shawna; Valdimarsdottir, Heiddis B; Nusbaum, Rachel; Hooker, Gillian; O'Neill, Suzanne; Jandorf, Lina; Kelly, Scott P; Heinzmann, Jessica; Zidell, Aliza; Khoury, Katia