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

An Unusual Cause of Hexokinase 1 Deficiency-Case Report

己糖激酶1缺乏症的一种罕见病因——病例报告

Kilich, Gonench; Maurer, Kelly; Jadhav, Tanaya; Jammihal, Tejas; Zhang, Zhe; Hartung, Helge; Izumi, Kosuki; Hassey, Kelly; Raper, Anna; Schindewolf, Erica; Conlin, Laura; Ganetzky, Rebecca; Li, Marilyn; Glader, Bertil; Rajagopalan, Ramakrishnan; Sullivan, Kathleen E

Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity

风疹病毒慢性炎症性疾病及其他先天性免疫缺陷中的异常病毒表型

Kilich, Gonench; Perelygina, Ludmila; Sullivan, Kathleen E

Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Kagami Ogata 综合征:一个小的缺失改进了印记的关键区域

Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel J Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan #, Kathleen E Sullivan #; UDN Consortium

Pitfalls of genetic testing in a patient with IKBKG deficiency

IKBKG 缺乏症患者基因检测的陷阱

Kilich, Gonench; Patel, Srushti; Hassey, Kelly; Weinberger, Tamar; Sullivan, Kathleen E