Lv13
30 积分 2025-08-27 加入
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
4小时前
已完结
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings
22小时前
已完结
Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear
2天前
已完结
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria
2天前
已完结
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria
5天前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
5天前
已完结
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
8天前
已完结
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis and characterisation of a novel MOCS1 variant
1个月前
已完结
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