Lv35
330 积分 2025-12-22 加入
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
13分钟前
求助中
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
56分钟前
求助中
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
8小时前
已完结
Overview of the syndrome of 12 chromosomal short arm partial trisomy
2天前
已关闭
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
4天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
16天前
已完结
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han
17天前
已完结
Genotype and phenotype analysis of a child with partial 18q deletion syndrome
1个月前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2个月前
已完结
Design, synthesis, and properties of N -annulated perylene-embedded carbon nanorings
Identification of a novel inhibitor of SARS‐CoV ‐2 main protease: an in silico , biochemical, and cell‐based approach
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