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

Patient journey and treatment pattern in myasthenia gravis: real-world data from the Brazilian public health system

重症肌无力患者的就医历程和治疗模式:来自巴西公共卫生系统的真实世界数据

Andrade, Renata; Marques Junior, Wilson; Vasconcelos, Luiza; Pungartnik, Paula; Berra, Thaís Zamboni; Cortez, Lucas Vieira; Beneduzzi, Daiane

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay

促性腺激素释放激素受体突变在青春期延迟患者中的作用

Beneduzzi, Daiane; Trarbach, Ericka B; Min, Le; Jorge, Alexander A L; Garmes, Heraldo M; Renk, Alessandra Covallero; Fichna, Marta; Fichna, Piotr; Arantes, Karina A; Costa, Elaine M F; Zhang, Anna; Adeola, Oluwaseun; Wen, Junping; Carroll, Rona S; Mendonça, Berenice B; Kaiser, Ursula B; Latronico, Ana Claudia; Silveira, Letícia F G

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3

由父系遗传的印记基因 makorin ring finger 3 突变引起的散发性中枢性性早熟

Macedo, Delanie B; Abreu, Ana Paula; Reis, Ana Claudia S; Montenegro, Luciana R; Dauber, Andrew; Beneduzzi, Daiane; Cukier, Priscilla; Silveira, Leticia F G; Teles, Milena G; Carroll, Rona S; Junior, Gil Guerra; Filho, Guilherme Guaragna; Gucev, Zoran; Arnhold, Ivo J P; de Castro, Margaret; Moreira, Ayrton C; Martinelli, Carlos Eduardo Jr; Hirschhorn, Joel N; Mendonca, Berenice B; Brito, Vinicius N; Antonini, Sonir R; Kaiser, Ursula B; Latronico, Ana Claudia

Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.

在一大群特发性中枢性性早熟患者中未发现功能性 LIN28B 突变

Silveira-Neto Acácio P, Leal Leticia Ferro, Emerman Amy B, Henderson Katherine D, Piskounova Elena, Henderson Brian E, Gregory Richard I, Silveira Letícia F Gontijo, Hirschhorn Joel N, Nguyen Thutrang T, Beneduzzi Daiane, Tusset Cintia, Reis Ana Claudia S, Brito Vinicius N, Mendonca Berenice B, Palmert Mark R, Antonini Sonir R, Latronico Ana Claudia

Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism

先天性孤立性促性腺激素低下性性腺功能减退症患者necdin基因突变分析

Beneduzzi, Daiane; Iyer, Anita K; Trarbach, Ericka Barbosa; Silveira-Neto, Acacio P; Silveira, Letícia G; Tusset, Cintia; Yip, Kathleen; Mendonça, Berenice B; Mellon, Pamela L; Latronico, Ana Claudia