Gastrulation-stage gene expression in Nipbl+/− mouse embryos foreshadows the development of syndromic birth defects

S Chea, J Kreger, ME Lopez-Burks, AL MacLean… - Science …, 2024 - science.org
In animal models, Nipbl deficiency phenocopies gene expression changes and birth defects
seen in Cornelia de Lange syndrome, the most common cause of which is Nipbl …

[HTML][HTML] 室间隔缺损与HAND2 基因罕见变异的关联分析

李美琨, 逄淑超, 闫波 - Chinese Journal of Contemporary …, 2023 - ncbi.nlm.nih.gov
室间隔缺损与HAND2基因罕见变异的关联分析- PMC Back to Top Skip to main content NIH
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Association of ventricular septal defect with rare variations of the HAND2 gene

MK Li, SC Pang, B Yan - Zhongguo Dang dai er ke za zhi= Chinese …, 2023 - europepmc.org
Objectives To study the association of ventricular septal defect (VSD) with rare variations in
the promoter region of HAND2 gene, as well as related molecular mechanisms. Methods …