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

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

家族性甲状腺髓样癌继发于SLC30A9基因内缺失和翻译重新起始

Iacovazzo, Donato; Begalli, Federica; Suleyman, Oniz; Doleschall, Márton; Alevizaki, Maria; Ashelford, Kevin E; Awad Mahmoud, Sherine; Barlier, Anne; Barry, Sayka; Brain, Caroline; Cabrera, Claudia P; Castinetti, Frédéric; Chiloiro, Sabrina; Colclough, Kevin; Csábi, Alexandra; Druce, Maralyn R; Dutta, Pinaki; Fatih, Jawid M; Foulkes, William D; Gandhi, Mira; Grochowski, Christopher M; Hall, Charlotte L; Jarząb, Barbara; Klein, Kathleen O; Krajewska, Jolanta; Kurzawinski, Tom R; Lamers, Sebastiaan; Lugli, Francesca; Magid, Kesson; Margraf, Rebecca; Martin, Carmen S; Mathiesen, Jes S; Mihai, Radu; Morrison, Patrick J; Mozere, Monika; Oczko-Wojciechowska, Małgorzata; Owens, Martina; Ozretić, Luka; Patócs, Attila; Piacentini, Serena; Punetha, Jaya; Romanet, Pauline; Savola, Suvi; Schoenfelder, Stefan; Scott-Coombes, David M; Stanescu, Horia; Tekman, Mehmet; Thomas, Laura E; Tóth, Miklós; Wingett, Steven W; Witcher, Michael; Carvalho, Claudia M B; Franke, Martin; Kleta, Robert; Lupski, James R; Sampson, Julian R; De Marinis, Laura; Korbonits, Márta

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

多发性内分泌肿瘤2B型患者的自然病史、治疗和长期随访:一项国际多中心回顾性研究

Castinetti, Frederic; Waguespack, Steven G; Machens, Andreas; Uchino, Shinya; Hasse-Lazar, Kornelia; Sanso, Gabriella; Else, Tobias; Dvorakova, Sarka; Qi, Xiao Ping; Elisei, Rossella; Maia, Ana Luisa; Glod, John; Lourenço, Delmar Muniz Jr; Valdes, Nuria; Mathiesen, Jes; Wohllk, Nelson; Bandgar, Tushar R; Drui, Delphine; Korbonits, Marta; Druce, Maralyn R; Brain, Caroline; Kurzawinski, Tom; Patocs, Atila; Bugalho, Maria Joao; Lacroix, Andre; Caron, Philippe; Fainstein-Day, Patricia; Borson Chazot, Francoise; Klein, Marc; Links, Thera P; Letizia, Claudio; Fugazzola, Laura; Chabre, Olivier; Canu, Letizia; Cohen, Regis; Tabarin, Antoine; Spehar Uroic, Anita; Maiter, Dominique; Laboureau, Sandrine; Mian, Caterina; Peczkowska, Mariola; Sebag, Frederic; Brue, Thierry; Mirebeau-Prunier, Delphine; Leclerc, Laurence; Bausch, Birke; Berdelou, Amandine; Sukurai, Akihiro; Vlcek, Petr; Krajewska, Jolanta; Barontini, Marta; Vaz Ferreira Vargas, Carla; Valerio, Laura; Ceolin, Lucieli; Akshintala, Srivandana; Hoff, Ana; Godballe, Christian; Jarzab, Barbara; Jimenez, Camilo; Eng, Charis; Imai, Tsuneo; Schlumberger, Martin; Grubbs, Elizabeth; Dralle, Henning; Neumann, Hartmut P; Baudin, Eric

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

使用供体特异性重编程细胞建立先天性肾上腺增生症模型并测试肾上腺功能不全的干预措施

Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J Ajodha, David R Taylor, Lea Ghataore, Norman F Taylor, Undine Schubert, Christian G Ziegler, Helen L Storr, Maralyn R Druce, Evelien F Gevers, William M Drake, Umasuthan Srirangalingam, Gerard S Conway, Peter J King, Louise A Metherel