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

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E