Lv31
208 积分 2024-10-25 加入
Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings
5小时前
待确认
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti
5天前
已关闭
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature
7天前
已关闭
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype–genotype correlation
12天前
已完结
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
13天前
已关闭
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India
25天前
已完结
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related
26天前
已完结
Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China
28天前
已完结
Apolipoprotein E polymorphism and vitamin K status in cystic fibrosis patients not supplemented with vitamin K
28天前
已关闭
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