Lv5
1287 积分 2022-05-11 加入
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study
1个月前
已完结
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
1个月前
已完结
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
1个月前
已完结
Proteomic phenotype of cerebral organoids derived from autism spectrum disorder patients reveal disrupted energy metabolism, cellular components, and biological processes
1个月前
已完结
Unraveling pathogenesis and potential biomarkers for autism spectrum disorder associated with HIF1A pathway based on machine learning and experiment validation
1个月前
已完结
The role of pathogenic TCF12 variants in children with coronal craniosynostosis—a systematic review with addition of two novel cases
2个月前
已完结
新生儿先天性肾上腺皮质增生症筛查与诊断实验室检测技术专家共识
2个月前
已完结
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
2个月前
已完结
[Consensus statement on neonatal screening for congenital adrenal hyperplasia]
2个月前
已完结
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
2个月前
已完结
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