Lv1
72 积分 2023-11-24 加入
Defective piRNA Processing and Azoospermia
1天前
待确认
Identification of two novel heterozygous SLC2A9 mutations in a Chinese woman and review of literature
10天前
已完结
Novel splice site mutation at the C‐terminal of SPINK5 cause a unique Netherton syndrome phenotype mimicking pustular psoriasis
1个月前
已完结
Novel biallelic mutations inSLC26A8cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease
1个月前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
2个月前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
2个月前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
2个月前
已完结
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
3个月前
已完结
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding
3个月前
已完结
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration
3个月前
已关闭
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