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

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete

作者更正:克里特岛帕金森病的遗传结构

Boura, Iro; Sait, Shaimaa; Marinakis, Nikolaos M; Arvind, Kumar; Chia, Ruth; Ray, Anindita; Vatsellas, Giannis; Loupis, Theodoros; Pavlaki, Vasiliki; Makrythanasis, Periklis; Mitsias, Panayiotis; Xiromerisiou, Georgia; Scholz, Sonja W; Spanaki, Cleanthe

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

ERN GENTURIS 指南:为患有癌症易感综合征(包括 Genturis)的个体提供生育选择咨询

Farschtschi, Said C; Kumps, Candy; Milagre, Tamara Hussong; Makrythanasis, Periklis; Van Tongerloo, Ariane; Denayer, Ellen; van Kouwen, Mariëtte; Carrasco López, Estela; Berghoff, Anna Sophie; Testa, Salvo; Cesaretti, Claudia; Trevisson, Eva; d' Oliveira, Renata; Fianchi, Francesca; Röhl, Claas; Salinas-Chaparro, Diana; Slegers, Ileen; Geilswijk, Marianne; Suerink, Manon; Spinelli, Irene; Janssens, Sandra; Pugh, Sarah; Sønderberg Roos, Laura Kirstine

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

The genetic architecture of Parkinson's disease on the Island of Crete

克里特岛帕金森病的遗传结构

Boura, Iro; Sait, Shaimaa; Marinakis, Nikolaos M; Arvind, Kumar; Chia, Ruth; Ray, Anindita; Vatsellas, Giannis; Loupis, Theodoros; Pavlaki, Vasiliki; Makrythanasis, Periklis; Mitsias, Panayiotis; Xiromerisiou, Georgia; Scholz, Sonja W; Spanaki, Cleanthe

Regulation of nucleotide excision repair by wild-type HRAS signaling in head and neck cancer.

野生型 HRAS 信号通路对头颈癌中核苷酸切除修复的调控

Hoxhallari Lorena, Katsikis Konstantinos, Makri Antigoni, Pouliou Marialena, Kanaki Zoi, Vatsellas Giannis, Sonou Christina, Telios Dimitrios, Giotakis Evangelos, Giotakis Aristeidis, Makrythanasis Periklis, Agelopoulos Marios, Psyrri Amanda, Rampias Theodoros

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

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease

希腊家族性和散发性帕金森病患者中发现的新型p.A30G SNCA致病变异

Alefanti, Ioanna; Koros, Christos; Tsami, Viktoria; Simitsi, Athina Maria; Kartanou, Chrisoula; Papagiannakis, Nikolaos; Bozi, Maria; Antonelou, Roubina; Maniati, Matina; Hauser, Ann-Kathrin; Varvaressos, Stefanos; Bonakis, Anastasios; Lourentzos, Konstantinos; Makrythanasis, Periklis; Papageorgiou, Sokratis G; Proukakis, Christos; Potagas, Constantinos; Gasser, Thomas; Koutsis, Georgios; Karadima, Georgia; Stefanis, Leonidas

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

SCN1A 调控多种癫痫表型:新型和已知变异体及其不同表现的报告

Veltra, Danai; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Tsaprouni, Triantafyllia; Pons, Roser; Kosma, Konstantina; Kampouraki, Afroditi; Tsoutsou, Irene; Makrythanasis, Periklis; Kekou, Kyriaki; Traeger-Synodinos, Joanne; Sofocleous, Christalena

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

TMEM63A 无义杂合变异与婴儿暂时性髓鞘形成不足性脑白质营养不良 19 型相关?

Siori, Dimitra; Vlachakis, Dimitrios; Makrythanasis, Periklis; Traeger-Synodinos, Joanne; Veltra, Danai; Kampouraki, Afrodite; Chrousos, George P