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

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!

由细胞浆苯丙氨酰-tRNA合成酶基因双等位基因突变引起的FARS1相关疾病:不仅仅是肺部!

Luise A Schuch, Maria Forstner, Christina K Rapp, Yang Li, Desiree E C Smith, Marisa I Mendes, Florent Delhommel, Michael Sattler, Nagehan Emiralioğlu, Ekim Z Taskiran, Diclehan Orhan, Nural Kiper, Meino Rohlfs, Tim Jeske, Maximilian Hastreiter, Michael Gerstlauer, Alba Torrent-Vernetta, Antonio Mor

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

CARMIL2 缺乏症表现为极早发性炎症性肠病

Thomas Magg, Anna Shcherbina, Duran Arslan, Mukesh M Desai, Sarah Wall, Vanessa Mitsialis, Raffaele Conca, Ekrem Unal, Neslihan Karacabey, Anna Mukhina, Yulia Rodina, Prasad D Taur, David Illig, Benjamin Marquardt, Sebastian Hollizeck, Tim Jeske, Florian Gothe, Tilmann Schober, Meino Rohlfs, Sibylle