The causative variant in a consanguineous family in which the three patients (two siblings
and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial …

Human mitochondrial DNA (mtDNA) research has entered a massively parallel sequencing (MPS)
era, providing deep insight into mtDNA genomics and molecular diagnostics. Analysis …

Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting
genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and …

Objective The study aimed to validate a whole‐genome sequencing‐based NIPT laboratory
method and our recently developed NIPTmer aneuploidy detection software with the …

Intravenous use of a psychostimulant drug containing methcathinone (ephedrone) and
manganese causes an irreversible extrapyramidal syndrome in drug abusers. We aimed to …

An intravenously injectable illicit drug made by mixing pseudoephedrine, potassium permanganate,
vinegar and water, yielding methcathinone (Mcat) and manganese (Mn), induces an …

Objective The study aimed to validate a whole-genome sequencing-based NIPT method and
our newly developed NIPTmer analysis software with the potential to integrate the pipeline …

Introduction and Hypothesis: Macrophage efferocytosis is a critical step in the resolution of
inflammation. Dysregulated macrophage efferocytosis has been implicated in the …

… The Sauk megasequence is approximately 16,000 ft (4800 m) thick in this area and has
been divided into nearly 50 lithostratigraphic units. Cambrian to Lower Ordovician rocks are …

Purpose: A 29 year old male from Hong Kong with a history of esophageal variceal bleeding
s/p EVL 3 weeks prior to admission presented with recurrent episodes of hematemesis and …