Lv31
255 积分 2021-01-13 加入
Reporting Criteria for Prenatally Identified Variants of Uncertain Significance Differs Among Cytogenetics Laboratories in North America
9小时前
已完结
Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
3个月前
已关闭
Mutation analysis of hereditary multiple exostoses in the Chinese
3个月前
已关闭
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
4个月前
已完结
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
4个月前
已完结
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China
4个月前
已完结
Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation
4个月前
已完结
A case of cystinuria presenting with cerebellar ataxia and dementia
5个月前
已完结
Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
5个月前
已完结
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
5个月前
已完结
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