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

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

ITPase 缺乏会导致 Martsolf 样综合征,并伴有致命的婴儿扩张型心肌病

Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

瓦氏微综合征的新型小鼠模型揭示了 RAB18 在眼睛发育和神经元细胞骨架组织中的作用

Sarah M Carpanini, Lisa McKie, Derek Thomson, Ann K Wright, Sarah L Gordon, Sarah L Roche, Mark T Handley, Harris Morrison, David Brownstein, Thomas M Wishart, Michael A Cousin, Thomas H Gillingwater, Irene A Aligianis, Ian J Jackson

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

BMP 拮抗剂 SMOC-1 的缺失会导致人类和小鼠患上眼肢畸形(瓦登堡无眼畸形)综合征

Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Fer