NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis,
congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung …

Although relatively rare, interstitial lung diseases may present with respiratory distress in the
newborn period. Most commonly these include developmental and growth disorders …

Amplified oncogene expression is a critical and widespread driver event in cancer, yet our
understanding of how amplification-mediated elevated dosage mediates oncogenic …

Benign hereditary chorea (BHC) is an inherited neurological disorder consisting of
childhood-onset, nonprogressive chorea, generally without any other manifestations. In most …

[目的] 通过分析生物信息数据库中影响急性髓系白血病(AML) 患者的预后的分子标志物的表达,
为进一步探索AML 预后的新型分子标志物提供实验基础.[方法] 从癌症基因组图谱(TCGA) …

Despite advances in next generation sequencing (NGS), genetic diagnoses remain elusive
for many patients with neurologic syndromes. Long‐read sequencing (LRS) and optical …

ABSTRACT (244 words) Background NKX2-1-related disorder (NKX2-1-RD) is a rare
disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress …

Background NKX2-1-related disorders have a prevalence of 1: 500,000 and are therefore
considered a rare condition according to the European Commission's definition. The …