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

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 功能障碍与 3-甲基戊二酸尿症相关

Demetriadou Anthi, Grafakou Olga, Georgiou Theodoros, Burska Daniela, Malekkou Anna, Krizova Jana, Paramera Efstathia, Mavrikiou Gavriella, Dionysiou Maria, Theodosiou Athina, Sismani Carolina, Anastasiadou Violetta, Ioannou Ioannis, Papakonstantinou Evangelos, Hansikova Hana, Drousiotou Anthi, Petrou Petros P

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

一种新型的大片段DPYD基因内缺失导致二氢嘧啶脱氢酶缺乏症:病例报告

Malekkou, Anna; Tomazou, Marios; Mavrikiou, Gavriella; Dionysiou, Maria; Georgiou, Theodoros; Papaevripidou, Ioannis; Alexandrou, Angelos; Sismani, Carolina; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

一组患有CblC缺陷的塞浦路斯患者病例:临床、生化和分子特征

Georgiou, Theodoros; Grafakou, Olga; Malekkou, Anna; Athanasiou, Emilia; Ioannou, Ioannis; Choleva, Vivi; Dionysiou, Maria; Mavrikiou, Gabriella; Demetriadou, Anthi; Anastasiadou, Violetta; Drousiotou, Anthi; Petrou, Petros P

Inherited metabolic disorders in Cyprus

塞浦路斯的遗传性代谢紊乱

Georgiou, Theodoros; Petrou, Petros P; Malekkou, Anna; Ioannou, Ioannis; Gavatha, Marina; Skordis, Nicos; Nicolaidou, Paola; Savvidou, Irini; Athanasiou, Emilia; Ourani, Sofia; Papamichael, Elena; Vogazianos, Marios; Dionysiou, Maria; Mavrikiou, Gabriella; Grafakou, Olga; Tanteles, George A; Anastasiadou, Violetta; Drousiotou, Anthi

Rhythmic Haptic Cueing Using Wearable Devices as Physiotherapy for Huntington Disease: Case Study

利用可穿戴设备进行节奏触觉提示作为亨廷顿病物理疗法:案例研究

Georgiou, Theodoros; Islam, Riasat; Holland, Simon; van der Linden, Janet; Price, Blaine; Mulholland, Paul; Perry, Allan

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

一名塞浦路斯女性出现角膜轮状混浊,并发现一种新的GLA基因缺失。

Georgiou, Theodoros; Mavrikiou, Gavriella; Alexandrou, Angelos; Spanou-Aristidou, Elena; Savva, Isavella; Christodoulides, Theodoros; Krasia, Maria; Christophidou-Anastasiadou, Violetta; Sismani, Carolina; Drousiotou, Anthi; Tanteles, George A

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis

塞浦路斯首例泰-萨克斯病家族:基因分析揭示了一个无义突变(c.78G>A)和一个沉默突变(c.1305C>T),并可进行胚胎植入前遗传学诊断。

Georgiou, Theodoros; Christopoulos, George; Anastasiadou, Violetta; Hadjiloizou, Stavros; Cregeen, David; Jackson, Marie; Mavrikiou, Gavriella; Kleanthous, Marina; Drousiotou, Anthi