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

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

五名儿童的1p34.3区域缺失,该区域包含AGO1和AGO3基因。

Tokita, Mari J; Chow, Penny M; Mirzaa, Ghayda; Dikow, Nicola; Maas, Bianca; Isidor, Bertrand; Le Caignec, Cédric; Penney, Lynette S; Mazzotta, Giovanni; Bernardini, Laura; Filippi, Tiziana; Battaglia, Agatino; Donti, Emilio; Earl, Dawn; Prontera, Paolo

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.

对一名智力障碍、几乎不会说话且疑似牙齿缺失的女孩进行首例基因内 SATB2 重复的特征分析

Kaiser Ann-Sophie, Maas Bianca, Wolff Anna, Sutter Christian, Janssen Johannes W G, Hinderhofer Katrin, Moog Ute