Lv54
1074 积分 2025-07-18 加入
Clinical and mutational study of a Chinese infant with isovaleric acidemia
8天前
已完结
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family
10天前
已完结
[Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases]
10天前
已完结
New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine
14天前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
19天前
已完结
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
20天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
23天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
23天前
已完结
First trimester megacystis caused by a homozygous variant in MYL9
29天前
已完结
Progressive Generalized Skin Laxity in a Young Woman
1个月前
已完结
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