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

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

揭示WDR91的作用:一例先前未被识别的临床实体的病例报告

Marinakis, Nikolaos M; Kampouraki, Afrodite; Veltra, Danai; Tilemis, Faidon-Nikolaos; Vasilopoulou, Maria; Dokou, Aikaterini; Georgiadou, Elissavet; Karavergou, Euthalia; Christolouka, Maria; Alexopoulos, Alexis; Kirillidi, Dimitra; Goudesidou, Maria; Kosma, Konstantina; Sofocleous, Christalena; Makrythanasis, Periklis

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function

一种与马里内斯科-舍格伦综合征相关的新型SIL1变异体(p.E342K)会损害蛋白质稳定性和功能。

Ruggieri, Anna Giulia; Marinakis, Nikolaos M; Amodei, Laura; Potenza, Francesca; Kampouraki, Afrodite; Tilemis, Faidon-Nikolaos; Pietrangelo, Laura; Viele, Marianna; Di Marco, Federica; Del Boccio, Piero; Di Cintio, Federica; Selenti, Nikoletta; Valari, Manthoula; Federici, Luca; Miele, Adriana Erica; Sallese, Michele; Makrythanasis, Periklis

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies

利用包含176个基因的1000例外显子组测序数据队列,估算高危夫妇的患病率及其对健康政策的重要性和相关性

Marinakis, Nikolaos M; Tilemis, Faidon-Nikolaos; Veltra, Danai; Svingou, Maria; Sofocleous, Christalena; Kekou, Kyriaki; Kosma, Konstantina; Kampouraki, Afrodite; Kontse, Chrysi; Fylaktou, Irene; Sertedaki, Amalia; Kanaka-Gantenbein, Christina; Traeger-Synodinos, Joanne; Makrythanasis, Periklis

Insights into the heterogeneity of oculopharyngeal muscular dystrophy

对眼咽肌营养不良症异质性的深入了解

Kekou, Kyriaki; Papadopoulos, Constantinos; Svingou, Maria; Chrysanthou-Piterou, Margarita; Nitsa, Evangelia; Veltra, Danai; Marinakis, Nikos; Tilemis, Faidon-Nikolaos; Dimitrios, Parissis; Arnaoutoglou, Marianthi; Moschou, Maria; Xirou, Sophia; Bakirtzis, Christos; Tsivgoulis, Georgios; Papadimas, Giorgos-Konstantinos; Sofocleous, Christalena

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

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

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7

通过对一名患有A7型轴后多指畸形患者的全外显子组测序数据进行拷贝数变异分析,鉴定出一个新的IQCE大片段缺失

Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M; Kosma, Konstantina; Fostira, Florentia; Traeger-Synodinos, Joanne