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130 积分 2024-08-07 加入
Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome
1个月前
已完结
Clinical research advances of CFHR5 nephropathy: a recent review
1个月前
已完结
Exploring the Biological Overlapping Between Brain Calcifications and Tumorgenesis
2个月前
已完结
Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis
2个月前
已完结
A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability
3个月前
已完结
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
3个月前
已完结
The phenotypic spectrum of CEP250 gene variants
3个月前
已完结
Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome
3个月前
已完结
Homozygous mutation of KISS1 receptor (KISS1R) gene identified in a Chinese patient with congenital hypogonadotropic hypogonadism (CHH): case report and literature review
4个月前
已完结
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
4个月前
已完结
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