Lv1
80 积分 2024-05-31 加入
Serum ceruloplasmin oxidase activity: A neglected diagnostic biomarker for Wilson disease
1个月前
已完结
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
1个月前
已完结
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
2个月前
已完结
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
3个月前
已关闭
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
3个月前
已完结
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism
3个月前
已完结
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies
3个月前
已完结
Further delineation of ERF-related Chitayat syndrome
3个月前
已关闭
[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]
3个月前
已完结
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases]
4个月前
已完结
皖公网安备34019202002308
