Lv5
1030 积分 2023-12-01 加入
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
28天前
已完结
Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes
1个月前
已完结
IQGAP3 deficiency leads to non-syndromic hearing loss via inhibition of CDC42 enzyme activity
1个月前
已完结
COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis
1个月前
已完结
Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder
1个月前
已完结
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome
1个月前
已完结
Deleterious variant in FAM71D cause male infertility with asthenoteratospermia
1个月前
已完结
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
2个月前
已完结
Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile
2个月前
已完结
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