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Research of the Year 2025
1天前
已关闭
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
9天前
已完结
Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring
14天前
已关闭
Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson’s Disease
28天前
已完结
Pathogenesis of Parkinson’s disease: from hints from monogenic familial PD to biomarkers
29天前
已完结
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix
1个月前
已关闭
A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case
1个月前
已完结
Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations
1个月前
已关闭
Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling
1个月前
已完结
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4
1个月前
已完结
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