Lv11
12 积分 2025-07-01 加入
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease
4小时前
已完结
Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China
14天前
已完结
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP
19天前
已完结
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
27天前
已完结
New mutation leading to the full variety of typical features of the Netherton syndrome
28天前
已完结
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
28天前
已完结
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up
28天前
已完结
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome
1个月前
已关闭
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
2个月前
已完结
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
2个月前
已完结
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