Lv5
1086 积分 2023-12-21 加入
First-trimester prenatal diagnosis of Crouzon syndrome
1天前
求助中
[Clinicopathological features of succinate dehydrogenase-deficient renal cell carcinoma]
13天前
已完结
Genotype–phenotype associations in SCN1A -related epilepsies
25天前
已完结
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy
26天前
已完结
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence
27天前
已完结
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
27天前
已完结
[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency]
27天前
已完结
[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants]
27天前
已完结
Biallelic pathogenicTULP3variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations
1个月前
已完结
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
1个月前
已完结
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