Lv11
80 积分 2024-05-31 加入
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy
7小时前
待确认
PTCH mutations: distribution and analyses
2天前
已完结
Serum ceruloplasmin oxidase activity: A neglected diagnostic biomarker for Wilson disease
3个月前
已完结
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
3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
4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
5个月前
已关闭
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
5个月前
已完结
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism
5个月前
已完结
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies
5个月前
已完结
Further delineation of ERF-related Chitayat syndrome
5个月前
已关闭
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