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

Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network

巴西公共卫生服务中基因检测的可及性:来自巴西罕见病网络的数据

de Oliveira, Bibiana Mello; Neiva, Mariane Barros; Carvalho, Isabelle; Schwartz, Ida Vanessa Doederlein; Alves, Domingos; Felix, Temis Maria

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

对巴西一组坎波梅利克骨发育不良患者进行临床和分子特征分析,并鉴定出7个新的SOX9突变

Mattos, Eduardo P; Sanseverino, Maria Teresa V; Magalhães, José Antônio A; Leite, Júlio César L; Félix, Temis Maria; Todeschini, Luiz Alberto; Cavalcanti, Denise P; Schüler-Faccini, Lavinia

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

IRF6 的病因调控突变具有功能丧失和获得的影响

Walid D Fakhouri, Fedik Rahimov, Catia Attanasio, Evelyn N Kouwenhoven, Renata L Ferreira De Lima, Temis Maria Felix, Larissa Nitschke, David Huver, Julie Barrons, Youssef A Kousa, Elizabeth Leslie, Len A Pennacchio, Hans Van Bokhoven, Axel Visel, Huiqing Zhou, Jeffrey C Murray, Brian C Schutte