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140 积分 2023-03-31 加入
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders
10天前
已完结
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene
17天前
已完结
Wilson's disease in Sardinian population: The experience of a pediatric referral center
17天前
已完结
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience
18天前
已关闭
[Molecular diagnosis of a family with May-Hegglin anomaly]
20天前
已完结
[Molecular diagnosis of a family with May-Hegglin anomaly]
20天前
已关闭
[Analysis of gene mutation in a family featuring autosomal dominant May-Hegglin anomaly]
20天前
已完结
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
21天前
已完结
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy
29天前
已完结
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
29天前
已完结
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