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

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

THOC2 mRNA 核输出因子变异导致临床表现不断扩展

Raman Kumar ,Elizabeth Palmer ,Alison E Gardner ,Renee Carroll ,Siddharth Banka ,Ola Abdelhadi ,Dian Donnai ,Ype Elgersma ,Cynthia J Curry ,Alice Gardham ,Mohnish Suri ,Rishikesh Malla ,Lauren Ilana Brady ,Mark Tarnopolsky ,Dimitar N Azmanov ,Vanessa Atkinson ,Michael Black ,Gareth Baynam ,Lauren Dreyer ,Robin Z Hayeems ,Christian R Marshall ,Gregory Costain ,Marja W Wessels ,Julia Baptista ,James Drummond ,Melanie Leffler ,Michael Field ,Jozef Gecz

Angiopoietin-1 is required for Schlemm's canal development in mice and humans

血管生成素-1 是小鼠和人类 Schlemm 管发育所必需的

Benjamin R Thomson, Tomokazu Souma, Stuart W Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M Siggs, Liang Feng, Kristina N Whisenhunt, Tammy L Yanovitch, Luba Kalaydjieva, Dimitar N Azmanov, Simone Finzi, Christine E Tanna, Alex W Hewitt, David A Mackey, Yasmin S Bradfield, Emmanuelle Souzeau, S

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1

常染色体隐性先天性小脑共济失调是由代谢型谷氨酸受体 1 突变引起的

Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudmila Angelova, Bharti Morar, David Chandler, Radka Kaneva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydji