Lv0
0 积分 2023-12-21 加入
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
3天前
已完结
Incompletely penetrant TRPM4‐associated progressive symmetric erythrokeratodermia responses to methotrexate
3天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
3天前
已完结
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
3天前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
4天前
已完结
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
12天前
已完结
Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy
14天前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
21天前
已完结
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
23天前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
24天前
已完结
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