Lv21
160 积分 2022-10-11 加入
Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome
2小时前
已完结
EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY
25天前
已关闭
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
1个月前
已完结
Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2‐associated syndrome and a brief review of literature
1个月前
已完结
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
2个月前
已完结
Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease
2个月前
已关闭
[Genetic analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene]
2个月前
已完结
Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort
3个月前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
5个月前
已关闭
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
6个月前
已完结
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