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128 积分 2022-01-19 加入
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
10小时前
已完结
Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations
1天前
已完结
Clinicopathological features of titinopathy from a Chinese neuromuscular center
1个月前
已完结
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]
2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
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]
2个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
5个月前
已完结
Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients
5个月前
已完结
[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review]
5个月前
已关闭
A genotype-first analysis in a cohort of Mullerian anomaly
5个月前
已完结
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