Lv22
158 积分 2024-12-02 加入
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
1个月前
已完结
[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]
1个月前
已完结
Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing
2个月前
已完结
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
2个月前
已完结
[Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]
2个月前
已完结
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing
3个月前
已完结
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome
3个月前
已完结
Clinical Significance of the Cystic Phenotype in Alport Syndrome
4个月前
已完结
Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles
4个月前
已完结
[The NMD escape mechanism and its application in disease therapy]
4个月前
已完结
皖公网安备34019202002308
