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20 积分 2025-08-26 加入
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
24天前
已完结
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency
1个月前
已完结
Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis
1个月前
已完结
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]
1个月前
已完结
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome
3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
4个月前
已完结
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
5个月前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
5个月前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
5个月前
已关闭
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
5个月前
已完结
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