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190 积分 2024-06-19 加入
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
14天前
已关闭
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]
17天前
已关闭
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
29天前
已完结
Monozygotic twins with identical premature timing of acne onset: A Case report
30天前
已完结
Mosaic loss of Y chromosome during aging
2个月前
已完结
Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD
2个月前
已完结
Total recall: the role of PIDDosome components in neurodegeneration
2个月前
已完结
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
3个月前
已完结
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
3个月前
已关闭
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study
3个月前
已完结
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