Lv2
160 积分 2022-10-11 加入
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population
9小时前
已完结
[Prenatal diagnosis for a fetus with 5p deletion syndrome]
6天前
已完结
From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome
6天前
已完结
Genetic Basis of Childhood Cardiomyopathy
9天前
已关闭
Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome
1个月前
已完结
EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY
2个月前
已关闭
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
3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
3个月前
已完结
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
3个月前
已完结
Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease
4个月前
已关闭
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