Lv6
2680 积分 2024-11-14 加入
Germline Neurofibromin 1 mutation enhances the anti‐tumour immune response and decreases juvenile myelomonocytic leukaemia tumourigenicity
3天前
已完结
M13 endopeptidases: New conserved motifs correlated with structure, and simultaneous phylogenetic occurrence of PHEX and the bony fish
9天前
已完结
Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation
11天前
已完结
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
16天前
已完结
Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin
1个月前
已完结
Severe Hb H Disease Caused by Hb Zürich–Albisrieden (HBA1: c.178G>C): Another Case Report
1个月前
已完结
Colchicine as a treatment option for inherited epidermolysis bullosa
1个月前
已完结
Clinical and genetic features of Classic Galactosemia in the south of Brazil
2个月前
已关闭
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study
2个月前
已完结
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
2个月前
已完结
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