Gerstmann–Sträussler–Scheinker syndrome came up in discussion, and I’m surprised by how easy it was to say it. In fact, the fact that Archer shortened it to GSS was just perfect ...

Down syndrome, the most frequent birth defect (around 1/700 births), results in most cases from the presence in all cells of an extra copy of chromosome 21. It is characterized by a complex and ...

“We need to be inclusive; there is a lot we can do to help Down syndrome individuals reach ... “No one should be left behind irrespective of chromosome numbers: end the stereotypes and don ...

These enlarged regions on the giant chromosomes found in some insect cells have been shown to be active genes. They probably produce the nucleic acid that translates the genetic information ...

2 Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA 3 Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA 4 Department of Human ...

UBE3A shows tissue specific imprinting, being expressed exclusively from the maternal allele in brain. The genetic mechanisms identified so far in AS are found in 85-90% of those with the clinical ...

We describe a 37-year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions ...

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