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

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum

AFG2A相关性脑病,扩展了神经发育和癫痫谱系

Nou-Fontanet, Laia; Cantalupo, Gaetano; Braun, Frederik; Camacho, Alia Ramírez; Álvarez, Verónica González; Chilavert, Verónica Delgadillo; Insuga, Víctor Soto; Fernández, Luisa Arrabal; Alonso-Colmenero, Itziar; Arzimanoglou, Alexis; Fons, Carmen

Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up

NKX2-1相关疾病中甲状腺功能的系统评价:治疗和随访

Carmona-Hidalgo, Beatriz; Herrera-Ramos, Estefanía; Rodríguez-López, Rocío; Nou-Fontanet, Laia; C Moreno, José; Blasco-Amaro, Juan Antonio; Léger, Juliane; Ortigoza-Escobar, Juan Darío