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

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

在一家三级医院,采用靶向大规模平行测序技术诊断遗传性内分泌疾病

Narcizo, Amanda M; Cardoso, Lais C; Benedetti, Anna F F; Jorge, Alexander A L; Funari, Mariana F A; Braga, Barbara L; Franca, Monica M; Montenegro, Luciana R; Lerario, Antonio M; Nishi, Mirian Y; Mendonca, Berenice B

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

利用靶向基因检测组进行先天性垂体功能减退症的基因诊断:GLI2、OTX2 和 GHRHR 中的新型致病变异

Nakaguma, Marilena; Correa, Fernanda A; Santana, Lucas S; Benedetti, Anna F F; Perez, Ricardo V; Huayllas, Martha K P; Miras, Mirta B; Funari, Mariana F A; Lerario, Antonio M; Mendonca, Berenice B; Carvalho, Luciani R S; Jorge, Alexander A L; Arnhold, Ivo J P