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Lianshu Han

shanghai institute of pediatric research
H指数:28
被引数:3,437

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Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency

联合生物化学和遗传学分析可改善多种酰基辅酶A脱氢酶缺乏症的早期诊断和产前评估

2026-05-290
PRE
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort
2023-12-092
OAAI
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

儿童non-21-hydroxylase-deficiency原发性肾上腺皮质功能不全的遗传和表型谱: 来自111名中国患者的数据

2023-08-163
PRE
Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts
2022-03-1528
OA