Lv6
2880 积分 2022-11-01 加入
Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis
17小时前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
5天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
5天前
已完结
PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY
8天前
已完结
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease
15天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
20天前
已完结
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
1个月前
已完结
Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients
1个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
1个月前
已完结
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders
1个月前
已完结
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