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

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

转录因子CP2样1的突变可能导致人类出现一种新的远端肾小管病变综合征。

Klämbt, Verena; Werth, Max; Onuchic-Whitford, Ana C; Getwan, Maike; Kitzler, Thomas M; Buerger, Florian; Mao, Youying; Deutsch, Konstantin; Mann, Nina; Majmundar, Amar J; Kaminski, Michael M; Shen, Tian; Schmidt-Ott, Kai M; Shalaby, Mohamed; El Desoky, Sherif; Kari, Jameela A; Shril, Shirlee; Lienkamp, Soeren S; Barasch, Jonathan; Hildebrandt, Friedhelm

Rare heterozygous GDF6 variants in patients with renal anomalies.

肾脏畸形患者中罕见的杂合 GDF6 变异

Martens Helge, Hennies Imke, Getwan Maike, Christians Anne, Weiss Anna-Carina, Brand Frank, Gjerstad Ann Christin, Christians Arne, Gucev Zoran, Geffers Robert, Seeman Tomáš, Kispert Andreas, Tasic Velibor, Bjerre Anna, Lienkamp Soeren S, Haffner Dieter, Weber Ruthild G

An Early Function of Polycystin-2 for Left-Right Organizer Induction in Xenopus

多囊蛋白-2在非洲爪蟾左右组织者诱导中的早期功能

Vick, Philipp; Kreis, Jennifer; Schneider, Isabelle; Tingler, Melanie; Getwan, Maike; Thumberger, Thomas; Beyer, Tina; Schweickert, Axel; Blum, Martin