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

Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease

儿童脑病:从临床、生化和细胞角度洞察 GNAO1 和 GNAI1 的 Gln52 对主要疾病的作用

Gonzalo P Solis, Tatyana V Kozhanova, Alexey Koval, Svetlana S Zhilina, Tatyana I Mescheryakova, Aleksandr A Abramov, Evgeny V Ishmuratov, Ekaterina S Bolshakova, Karina V Osipova, Sergey O Ayvazyan, Sébastien Lebon, Ilya V Kanivets, Denis V Pyankov, Sabina Troccaz, Denis N Silachev, Nikolay N Zavad

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

一例因着丝粒周围倒位 inv(11)(p13q14) 导致的先天性无虹膜症,与 11p13 区域内 977 kb 的缺失有关

Tatyana A Vasilyeva, Andrey V Marakhonov, Marina E Minzhenkova, Zhanna G Markova, Nika V Petrova, Natella V Sukhanova, Philipp A Koshkin, Denis V Pyankov, Ilya V Kanivets, Sergey A Korostelev, Irina A Krynskaya, Nadezhda V Shilova, Sergey I Kutsev, Vitaly V Kadyshev, Rena A Zinchenko