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

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review

克利夫斯特拉综合征1型患者中一种新的移码变异和EHMT1部分微缺失导致表型严重程度差异及文献综述

Tzetis, Maria; Mitrakos, Anastasios; Papathanasiou, Ioanna; Koute, Vasiliki; Kosma, Konstantina; Pons, Roser; Michoula, Aspasia; Grivea, Ioanna; Tsezou, Aspasia

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

希腊脊髓性肌萎缩症基因型和流行病学评估:一项历时24年的全国性研究

Kekou, Kyriaki; Svingou, Maria; Sofocleous, Christalena; Mourtzi, Niki; Nitsa, Evangelia; Konstantinidis, George; Youroukos, Sotiris; Skiadas, Konstantinos; Katsalouli, Marina; Pons, Roser; Papavasiliou, Antigoni; Kotsalis, Charalabos; Pavlou, Evangelos; Evangeliou, Athanasios; Katsarou, Efstathia; Voudris, Konstantinos; Dinopoulos, Argirios; Vorgia, Pelagia; Niotakis, George; Diamantopoulos, Nikolaos; Nakou, Iliada; Koute, Vasiliki; Vartzelis, George; Papadimas, George-Konstantinos; Papadopoulos, Constantinos; Tsivgoulis, Georgios; Traeger-Synodinos, Joanne