Lv11
30 积分 2023-07-04 加入
Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome
2小时前
待确认
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
2小时前
已完结
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy
14天前
已完结
Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome
1个月前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
3个月前
已完结
Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients
3个月前
已完结
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
7个月前
已完结
Chromosomal abnormalities associated with fetal megacystis
9个月前
已完结
A clinical study of preimplantation DNA methylation screening in assisted reproductive technology
10个月前
已完结
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis
10个月前
已完结
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