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28 积分 2022-02-06 加入
Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes
5小时前
待确认
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
16小时前
已完结
A20 Haploinsufficiency: A Systematic Review of 177 Cases
1个月前
已完结
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
1个月前
已完结
Current landscape of targeted therapy in esophageal squamous cell carcinoma
1个月前
已完结
A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome
2个月前
已完结
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
2个月前
已完结
Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes
2个月前
已完结
Severe pulmonary hypertension in pulmonary alveolar microlithiasis: A comprehensive literature review
4个月前
已关闭
ADA gene haplotype is associated with coronary-in-stent-restenosis
4个月前
已关闭
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