Lv1
60 积分 2024-05-28 加入
Novel 10q21.1-q22.1 duplication in a boy with minor facial dysmorphism, mild intellectual disability, autism spectrum disorder -like phenotype, and short stature
1个月前
已关闭
[Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly]
2个月前
已完结
Molecular analysis of 12 Chinese patients with 11β‐hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
4个月前
已完结
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients
4个月前
已完结
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency
4个月前
已完结
Congenital heart defects in the recurrent 2q13 deletion syndrome
9个月前
已完结
[Elevated levels of plasma 4-ene steroids in a case of congenital deficiency of 3 beta-hydroxysteroid dehydrogenase]
10个月前
已关闭
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
10个月前
已完结
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