Lv33
268 积分 2023-09-13 加入
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening
2天前
已完结
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population
1个月前
已完结
Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis
1个月前
已关闭
Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance
2个月前
已完结
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
2个月前
已完结
Crystal Structures of Human HMG-CoA Synthase Isoforms Provide Insights into Inherited Ketogenesis Disorders and Inhibitor Design
2个月前
已完结
The diagnosis of mitochondrial HMG-CoA synthase deficiency
2个月前
已完结
Genetic basis of mitochondrial HMG-CoA synthase deficiency
2个月前
已完结
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
2个月前
已完结
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
2个月前
已完结
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