Lv3
208 积分 2025-05-12 加入
Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2
2天前
已完结
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations
16天前
已完结
R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients
16天前
已完结
Clinical and molecular analysis of seventy-one fetal cases with RASopathies
22天前
已完结
The clinical relevance of intragenic NRXN1 deletions
24天前
已完结
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants
25天前
已关闭
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
30天前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
1个月前
已完结
Trochlear nerve agenesis in a patient with 18q22.2q23 deletion
1个月前
已完结
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