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

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency

对导致ARPC1B缺陷的创始突变进行分子分析和免疫学表征

Dobrose, Megan M; Kars, Meltem Ece; Perez-Caraballo, Jareb J; Roark, Colleen M; Mariskanish, Christine; Zavaleta-Martinez, Oscar; Gomez-Hernandez, Noemi; Lugo-Reyes, Saul Oswaldo; Itan, Yuval; Blancas-Galicia, Lizbeth; Martínez-Barricarte, Rubén

Primary Amoebic Meningoencephalitis caused by Complement C2 Deficiency

由补体C2缺乏引起的原发性阿米巴脑膜脑炎

Cui, Jian; Roark, Colleen M; Domínguez-Pinilla, Nerea; Nozal Aranda, Pilar; Losada, Begoña; Zamarrón, Pilar; Lorenzo-Morales, Jacob; Rubio Muñoz, José Miguel; Dobrose, Megan M; Van den Rym, Ana; Allende, Luis M; Shelton, Catherine; Reyna, Dante E; Markle, Janet G; Rodríguez de Córdoba, Santiago; Lopez-Trascasa, Margarita; Pérez de Diego, Rebeca; Serezani, C Henrique; Byndloss, Mariana X; de Fuentes Corripio, Isabel; González-Granado, Luis Ignacio; Martinez-Barricarte, Ruben

In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.

对一名患有免疫缺陷、着丝粒不稳定和面部畸形综合征 2 型的患者进行深入的免疫分析,该综合征是由 ZBTB24 中的一种新突变引起的

Roark Colleen M, Ramírez-Vásquez Diana, Giron Martinez Jenniffer Yissel, Zhen Xin, Del Bene Alexa N, Gibson Shannon E, Dobrose Megan M, Halasa Natasha B, Blancas-Galicia Lizbeth, Martinez-Barricarte Ruben