Lv1
80 积分 2024-05-31 加入
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
9天前
已完结
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
1个月前
已关闭
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
1个月前
已完结
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism
1个月前
已完结
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies
1个月前
已完结
Further delineation of ERF-related Chitayat syndrome
1个月前
已关闭
[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]
1个月前
已完结
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases]
1个月前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
1个月前
已完结
[Molecular genetics and clinical features of nine patients with inherited coagulation factor VII deficiency]
1个月前
已完结
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