官方服务：
资源简介：
......
应用场景：
创建时间：
2020-08-13
相关数据集
joey234/mmlu-medical_genetics
--- dataset_info: features: - name: question dtype: string - name: choices sequence: string - name: answer dtype: class_label: names: '0': A '1':
Hugging Face2023-08-23 更新150
Supplementary Material for: The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its re
Figshare2017-05-19 更新30
Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines
Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines
ChEBI2012-08-14 更新20
Additional file 11 of PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation
Additional file 11: Table S10. Repeat percentage in 193 medical relevant genes.
DataCite Commons2021-09-15 更新80
2016-2020年北京特发性矮小症患者高通量测序数据和身材矮小患者骨软骨发育障碍基因突变谱以及身材矮小等生长障碍基因拷贝数变异谱
本数据集纳入2016年12月至2020年11月期间于北京协和医院内分泌科门诊就诊的180例特发性矮小症患者，为进一步筛查他们的矮小致病基因，留取患者及其父母或相关家系成员外周血，提取外周血DNA。对患者行全外显子测序，若全外检出阳性结果，则进一步对其家系成员进行sanger验证。通过以上方法，可明确部分患者的矮小致病基因，指导下一步诊疗方案的制定。
国家人口健康科学数据中心20
