Lv41
616 积分 2023-07-21 加入
Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population
14天前
已完结
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann–Pick type C disease
19天前
已完结
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
29天前
已完结
Invasive ACTH-producing pituitary gland neoplasm secondary to MSH2 mutation
29天前
已完结
Loss‐of‐function mutations in SGCE found in Japanese patients with myoclonus‐dystonia
30天前
已完结
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
30天前
已完结
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
30天前
已完结
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review
1个月前
已完结
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing
1个月前
已完结
[Two cases of cystic fibrosis in Japanese/German twins]
1个月前
已关闭
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