Lv71
4080 积分 2021-07-09 加入
Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation‐arteriovenous malformation
1个月前
已完结
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated withEPHB4pathogenic variants
1个月前
已完结
Non‐mosaic 9p tetrasomy with congenital diaphragmatic hernia
1个月前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
1个月前
已完结
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
2个月前
已完结
Identification of IRF6 gene variants in three families with Van der Woude syndrome
2个月前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
4个月前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
4个月前
已关闭
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
6个月前
已完结
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