Background Globally, access to healthcare and diagnostic technologies are known to
substantially impact the reported birth prevalence of congenital heart disease (CHD). Previous …

This paper explores recent trends in the size of scientific teams and in institutional
collaborations. The data derive from 2.4 million scientific papers written in 110 top US research …

Background Congenital heart disease (CHD) is the commonest birth defect. Studies estimating
the prevalence of CHD in school-age children could therefore contribute to quantifying …

Insomnia has been established as a risk factor for depression and mental illness for decades,
but a growing body of evidence has recently exposed insomnia to be an independent risk …

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial
appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual …

… CLPP sequence also included intron 2, exon 3, and 660 bp of flanking intronic sequences
(black). Horizontal arrows indicate locations of vector-specific primers used for PCR …

Visual Acuity after Retinal Gene Therapy for Choroideremia | NEJM Skip to main content NEJM
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INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows
homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to …

… , allowing the successful mapping of more repetitive regions during bioinformatic analysis.73,
74 Shared regions of poor coverage across the 2 platforms are likely due to high GC or AT …

MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …