Lv11
98 积分 2023-09-13 加入
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population
3天前
已完结
Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis
12天前
已关闭
Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance
17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
Crystal Structures of Human HMG-CoA Synthase Isoforms Provide Insights into Inherited Ketogenesis Disorders and Inhibitor Design
27天前
已完结
The diagnosis of mitochondrial HMG-CoA synthase deficiency
27天前
已完结
Genetic basis of mitochondrial HMG-CoA synthase deficiency
27天前
已完结
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
30天前
已完结
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
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