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60 积分
2023-10-08 加入
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Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
10天前
已完结
Gene mutation analysis in patients with propionic acidemia
26天前
已关闭
Molecular analysis of PCCB gene in Korean patients with propionic acidemia
26天前
已完结
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations
1个月前
已完结
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations
1个月前
已完结
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients
1个月前
已完结
Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
2个月前
已完结
Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy
2个月前
已完结
Persistent mild hypothyroidism associated with novel sequence variants of theDUOX2 gene in two siblings
2个月前
已完结
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency
2个月前
已完结
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