Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

已取消 10 由龙凌音发布于 2026/1/22 8:46:36

DOI:10.1016/j.gim.2024.101349
作者：Julian E. Alecu ,?Amy Tam ,?Silja Richter ,?Vicente Quiroz ,?Luca Schierbaum ,?Afshin Saffari ,?Darius Ebrahimi-Fakhari
文献类型：期刊论文
补充材料：只需要正文

Elsevier

Abstract：PurposeBiallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to

应助信息

2026-01-22

Book学术机器人

2026/1/22 8:46:36 未找到该文献，机器人已退出，请等待人工下载

2026/1/22 8:46:36 Book学术AI机器人收到请求，开始寻找文献

2026/1/22 8:46:36 已向机器人发送请求

2026-01-22

龙凌音发布求助

上一个求助:其它数据库Naturally Fractured Carbonate Reservoir Characterization: A Case Study of a Mature High-Pour Point Oil Field in Hungary 下一个求助:其它数据库A Novel SR?DAB Topology with Reduced Reactive Current for High?Density EV Charging