Lv21
118 积分 2024-12-02 加入
[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]
6小时前
已完结
Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing
7天前
已完结
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
13天前
已完结
[Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]
19天前
已完结
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing
1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
1个月前
已完结
Clinical Significance of the Cystic Phenotype in Alport Syndrome
2个月前
已完结
Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles
2个月前
已完结
[The NMD escape mechanism and its application in disease therapy]
2个月前
已完结
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
3个月前
已完结
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