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

Eating Disorder vs Addison's Disease: A Case Report and Review of the Published Case Reports

进食障碍与艾迪生病:病例报告及已发表病例报告综述

Touzon, Ruben

Homogeneity of pharmacological prescription and control measures applied in cases of scabies detected amongst inmates in Catalonia

加泰罗尼亚监狱囚犯疥疮病例中药物处方和控制措施的同质性

Moreno-Valdiris, Efrain A; Gallego, Carlos; Abdo, Indiana Jesús; Flores-Imbernón, Angels; Vaz, María Elisa; Touzon, Carlos; Marco, Andrés

Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5

在秀丽隐杆线虫中构建与原发性卵巢功能不全相关的基因位点模型,鉴定出MSH5基因的新型致病等位基因

Macaisne, Nicolas; Touzon, Maria Sol; Rajkovic, Aleksander; Yanowitz, Judith L

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

由Wilms肿瘤1(WT1)基因的新型致病变异引起的XX个体睾丸形成

Eozenou, Caroline; Gonen, Nitzan; Touzon, Maria Sol; Jorgensen, Anne; Yatsenko, Svetlana A; Fusee, Leila; Kamel, Alaa K; Gellen, Balazs; Guercio, Gabriela; Singh, Priti; Witchel, Selma; Berman, Andrea J; Mainpal, Rana; Totonchi, Mehdi; Mohseni Meybodi, Anahita; Askari, Masomeh; Merel-Chali, Tiphanie; Bignon-Topalovic, Joelle; Migale, Roberta; Costanzo, Mariana; Marino, Roxana; Ramirez, Pablo; Perez Garrido, Natalia; Berensztein, Esperanza; Mekkawy, Mona K; Schimenti, John C; Bertalan, Rita; Mazen, Inas; McElreavey, Ken; Belgorosky, Alicia; Lovell-Badge, Robin; Rajkovic, Aleksandar; Bashamboo, Anu

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

雄激素不敏感综合征:单中心三级医疗中心队列的临床表型和分子分析

Touzon, Maria Sol; Garrido, Natalia Perez; Marino, Roxana; Ramirez, Pablo; Costanzo, Mariana; Guercio, Gabriela; Berensztein, Esperanza; Rivarola, Marco A; Belgorosky, Alicia

SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients

SUN-047 DICER1基因的种系和体细胞突变与儿童患者不同遗传性肿瘤相关

Vettath, Vineeth Kodengil; Junqueira, Ana Carolina M; Uchida, Akira; Purbojati, Rikky W; Houghton, James N I; Chénard, Caroline; Drautz-Moses, Daniela I; Wong, Anthony; Kolundžija, Sandra; Clare, Megan E; Lau, Kenny J X; Gaultier, Nicolas E; Heinle, Cassie E; Premkrishnan, Balakrishnan N V; Gusareva, Elena S; Acerbi, Enzo; Yang, Liang; Schuster, Stephan C; Trobo, Sofia; Ramirez, Pablo; Perez- Garrido, Natalia; Touzon, Maria; Vaiani, Elisa; Costanzo, Mariana; Herzovich, Viviana; Moresco, Angela; Dujovne, Noelia; Lubieniecki, Fabiana; Galeano, Jesica; Chantada, Guillermo; Obregon, Maria Gabriela; Belgorosky, Alicia; Marino, Roxana