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

IL2RG-related immunodeficiencies: from SCID to atypical presentations

IL2RG相关免疫缺陷:从重症联合免疫缺陷病到非典型表现

Briassouli, Efrossini; Marinakis, Nikolaos; Spoulou, Vana; Notarangelo, Luigi D

Deregulated megakaryocytic maturation, mitochondrial function and inflammatory signalling in CYCS(c.292T>C)-related thrombocytopenia

CYCS(c.292T>C)相关血小板减少症中巨核细胞成熟失调、线粒体功能异常和炎症信号传导异常

Giavi, Konstantina; Fasouli, Eirini Sofia; Glentis, Stavros; Bouchla, Anthi; Apostolidou, Anastasia; Marinakis, Nikolaos M; Vatsellas, Giannis; Kontsioti, Frida; Kattamis, Antonis; Pappa, Vasiliki; Katsantoni, Eleni

Augmented and Mixed Reality in Cardiac Surgery: A Narrative Review

增强现实和混合现实在心脏外科手术中的应用:叙述性综述

Sarantopoulos, Andreas; Marinakis, Maria; Schizas, Nikolaos; Iliopoulos, Dimitrios

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 programmed decline in ribosome levels governs human early neurodevelopment

核糖体水平的程序性下降控制着人类早期神经发育。

Chunyang Ni # ,Yudong Wei # ,Barbara Vona # ,Dayea Park ,Yulei Wei ,Daniel A Schmitz ,Yi Ding ,Masahiro Sakurai ,Emily Ballard ,Leijie Li ,Yan Liu ,Ashwani Kumar ,Chao Xing ,Shenlu Qin ,Sangin Kim ,Martina Foglizzo ,Jianchao Zhao ,Hyung-Goo Kim ,Cumhur Ekmekci ,Ehsan Ghayoor Karimiani ,Shima Imannezhad ,Fatemeh Eghbal ,Reza Shervin Badv ,Eva Maria Christina Schwaibold ,Mohammadreza Dehghani ,Mohammad Yahya Vahidi Mehrjardi ,Zahra Metanat ,Hosein Eslamiyeh ,Ebtissal Khouj ,Saleh Mohammed Nasser Alhajj ,Aziza Chedrawi ,Khushnooda Ramzan ,Jamil A Hashmi ,Majed M Alluqmani ,Sulman Basit ,Danai Veltra ,Nikolaos M Marinakis ,Georgios Niotakis ,Pelagia Vorgia ,Christalena Sofocleous ,Hane Lee ,Won Chan Jeong ,Muhammad Umair ,Muhammad Bilal ,César Augusto Pinheiro Ferreira Alves ,Matthew Sieber ,Michael Kruer ,Henry Houlden ,Fowzan S Alkuraya ,Elton Zeqiraj ,Roger A Greenberg ,Can Cenik ,Leqian Yu ,Reza Maroofian ,Jun Wu ,Michael Buszczak

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

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

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