官方服务：
资源简介：
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
应用场景：
创建时间：
2025-06-10
相关数据集
Supplementary Material for: Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series
Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisol
DataCite Commons2020-08-29 更新160
Table1_Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome.xlsx
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS). The disease is inherited in an X-linke
NIAID Data Ecosystem80
Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Additional file 1: Table S1. Detailed clinical information.
Figshare2021-03-18 更新20
Real-world experience of patients newly initiated on pexidartinib for tenosynovial giant cell tumor
Tenosynovial giant-cell tumor (TGCT) is a rare condition characterized by pain, stiffness, and limited range of motion. Pexidartinib is the first regulatory-approved systemic therapy for adult patient
DataCite Commons2025-11-11 更新80
2016-2018年北京MeCP2过表达小鼠给予977的药效学研究报告和与CK2相互作用研究数据
MeCP2与CK2相互作用蛋白质组研究数据，采集地点为北京，采集时间为2018-2020年。数据共享方式为协议共享。数据为经仪器自动采集的实验结果，本项目中公开共享数据不需要用户申请，在使用或对本项目科学数据再加工时，应在成果中标注数据来源，按照要求规范、准确的引用数据。本数据通过研究MeCP2过表达小鼠为977药物的药效动力学研究提供重要依据。
国家人口健康科学数据中心30
