Lv12
100 积分 2025-01-07 加入
A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity
1个月前
已关闭
Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3
1个月前
已关闭
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
1个月前
已完结
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
1个月前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
2个月前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2个月前
已完结
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
2个月前
已完结
Clinical exome sequencing findings in 1589 patients
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
The mutation spectrum of Parkinson‐disease‐related genes in early‐onset Parkinson's disease in ethnic Chinese
2个月前
已完结
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