Lv12
30 积分 2023-07-04 加入
A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency
4小时前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
1天前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
1个月前
已完结
Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome
6个月前
已完结
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
6个月前
已完结
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy
6个月前
已完结
Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome
7个月前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
9个月前
已完结
Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients
9个月前
已完结
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
1年前
已完结
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