Lv11
50 积分 2024-10-28 加入
Newborn screening of maple syrup urine disease and the effect of early diagnosis
1小时前
已完结
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
15天前
已完结
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
16天前
已完结
Genotype–phenotype correlation study of structural abnormalities in a fetal brain caused by a novel KDM4B variant
17天前
已完结
Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa
19天前
已关闭
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
24天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
25天前
已完结
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa
27天前
已完结
Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease
29天前
已完结
Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
29天前
已完结
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