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

Synovial Fibroblast Extracellular Vesicles Induce Inflammation via Delivering miR-21-5p in Osteoarthritis

滑膜成纤维细胞外囊泡通过递送 miR-21-5p 诱导骨关节炎炎症

Konteles, Vasileios; Papathanasiou, Ioanna; Tzetis, Maria; Kriebardis, Anastasios; Tsezou, Aspasia

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

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

阿尔波特综合征:早期基因诊断在儿童中的临床应用

Christodoulaki, Vasileia; Kosma, Konstantina; Marinakis, Nikolaos M; Tilemis, Faidon-Nikolaos; Stergiou, Nikolaos; Kampouraki, Afroditi; Kapogiannis, Charalampos; Karava, Vasiliki; Mitsioni, Andromachi; Mila, Maria; Kanaka-Gantenbein, Christina; Makrythanasis, Periklis; Tzetis, Maria; Traeger-Synodinos, Joanne

Clinical Course of a Child With Cystic Fibrosis and the Genotype F508del/CFTRdup1_11: A Case Report

一例囊性纤维化患儿(基因型为F508del/CFTRdup1_11)的临床病程:病例报告

Petrocheilou, Argyri; Tzetis, Maria; Loukou, Ioanna

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children

希腊儿童队列中咖啡斑的特征及其与I型神经纤维瘤病基因型的关联

Nasi, Lamprini; Alexopoulos, Alexios; Kokkinou, Eleftheria; Roka, Kleoniki; Tzetis, Maria; Tsipi, Maria; Kakourou, Talia; Kanaka-Gantenbein, Christina; Chrousos, George; Kattamis, Antonis; Pons, Roser

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

产前染色体微阵列分析:分辨率提高是否等于检测率提高?

Mitrakos, Anastasios; Kosma, Konstantina; Makrythanasis, Periklis; Tzetis, Maria

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

通过全外显子组测序(WES)数据分析进行种系拷贝数变异(CNV)检测,可提高罕见遗传疾病的诊断分辨率。

Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M; Veltra, Danai; Svingou, Maria; Kekou, Kyriaki; Mitrakos, Anastasios; Tzetis, Maria; Kosma, Konstantina; Makrythanasis, Periklis; Traeger-Synodinos, Joanne; Sofocleous, Christalena

The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients

胚胎植入前非整倍体基因检测(PGT-A)对高危患者临床结局的影响

Amelia Pantou # ,Anastasios Mitrakos # ,Georgia Kokkali ,Konstantina Petroutsou ,Georgia Tounta ,Leandros Lazaros ,Alexandros Dimopoulos ,Konstantinos Sfakianoudis ,Konstantinos Pantos ,Michael Koutsilieris ,Ariadni Mavrou ,Emmanuel Kanavakis ,Maria Tzetis

Severe Hemophilia A and Moyamoya Syndrome in a 19-Year-Old Boy Caused by Xq28 Microdeletion

一名19岁男孩因Xq28微缺失而患上重度血友病A和烟雾病

Tzeravini, Evangelia; Samara, Stamatia; Kouramba, Anna; Vakrinos, Georgios; Efthimiou, Athina; Tzetis, Maria; Androutsakos, Theodoros

The effects of aging on molecular modulators of human embryo implantation

衰老对人类胚胎植入分子调节剂的影响

Panagiotis Ntostis, Grace Swanson, Georgia Kokkali, David Iles, John Huntriss, Agni Pantou, Maria Tzetis, Konstantinos Pantos, Helen M Picton, Stephen A Krawetz, David Miller