Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, ...

Imposter syndrome is when you doubt your own skills and successes. You feel you're not as talented or worthy as others believe, and you're scared that one day, people will realize that.

2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...

The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical ...

Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...

To search for mutations, we designed overlapping primer pairs to amplify the complete ORNT1 ORF in overlapping segments. We generated first strand cDNA with primers DV3459 (antisense, 5 ...

In one patient, we discovered a new mutation p.Gly477Ala (c.1430G>C) in exon 14 that has not yet been identified. The presence of these variants and their allelic forms (heterozygous / homozygous) ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

With its distinctive kumadori make-up, vibrant costumes, and dynamic action, the kabuki theater occupies a central position in Japan’s performing arts and is an immediately recognizable symbol ...

Cushing syndrome (CS) is defined by signs and symptoms caused by hypercortisolism. In this Primer, Nieman and colleagues outline the causes of endogenous CS and discuss epidemiology ...

A linkage has been established between Cornelia de Lange syndrome and specific human genes. Three specific gene mutations have been found to correlate to the presence of Cornelia de Lange syndrome.

Discover what kabuki tells us about Japanese attitudes to swords, which feature in many legends and transcend the realm of weapons. Within each awe-inspiring Japanese sword, they say, dwells a spirit.