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110 积分 2022-10-11 加入
Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease
8小时前
求助中
[Genetic analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene]
7天前
已完结
Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort
23天前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
3个月前
已关闭
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
3个月前
已完结
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis
4个月前
已完结
C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics
4个月前
已完结
Identification of a novel mutation and genotype–phenotype relationship in MEGF10 myopathy
4个月前
已关闭
Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome
4个月前
已完结
Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases
4个月前
已完结
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