Lv11
80 积分 2024-02-28 加入
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
3小时前
待确认
Regulation of fetal hemoglobin synthesis by cell cycle specific drugs
1个月前
已关闭
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
1个月前
已完结
Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases
2个月前
已完结
Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy
2个月前
已关闭
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
3个月前
已完结
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study
4个月前
已完结
Remodelling of Early Axonal Projections Through the Selective Elimination of Neurons and Long Axon Collaterals
4个月前
已关闭
A novel LDLR mutation, H190Y, in a Utah kindred with familial Hypercholesterolemia
5个月前
已完结
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia
5个月前
已完结
A comprehensive review on fundamental properties and applications of poly(vinylidene fluoride) (PVDF)
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