Lv5
930 积分 2023-08-21 加入
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)
2天前
已完结
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
2天前
已完结
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
15天前
已关闭
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
15天前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
1个月前
已完结
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis
1个月前
已完结
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome
1个月前
已关闭
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
1个月前
已完结
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