Lv3
364 积分 2025-03-21 加入
ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals
19天前
已完结
RETRACTED ARTICLE: Weiss-Kruszka Syndrome: two new case reports of Chinese ancestry and literature review
1个月前
已完结
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review
1个月前
已完结
Newborn screening for inborn errors of metabolism in a northern Chinese population
1个月前
已完结
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy
2个月前
已关闭
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy
2个月前
已完结
[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]
2个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
2个月前
已完结
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
3个月前
已完结
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