2-4 = 1 point Probable: history of infantile hypotonia, developmental delay and/ or intellectual disability, and long palpebral fissures with eversion of the lateral third of the lower eyelid and at ...

The Genetics of Klinefelter's Syndrome Klinefelter syndrome is characterized by an abnormality in the chromosomes or genetic material which make up our DNA. Ordinarily we have 46 chromosomes, 23 from ...

Nintendo Switch 2 is finally confirmed. After literal years of unverified rumors, dubious leaks and copious amounts of online speculation, Nintendo has lifted the lid on its next-generation ...

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.

A focused evaluation of scalp hair should be part of every newborn physical assessment. Although typically completed in the delivery room, it may be useful to re-evaluate the infant after the ...

In the trial, participants received 1.2 mg/day of vafidemstat for 8 weeks ... with vafidemstat in genetically-defined patient subpopulations of certain CNS disorders and is evaluating a clinical trial ...

Here we performed a principal component decomposition of the whole set of exome data (n = 85,899 variants after applying the filters described above), without LD pruning, to identify outliers due to ...