Electronic Journal of Medical Genetics – Page 647

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[ July 11, 2018 ] Expert consensus guidelines for the genetic diagnosis of Alport syndrome. none
[ July 11, 2018 ] Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. none
[ July 11, 2018 ] New generation sequencing of targeted genes in the classical and the variant form of hairy cell leukemia highlights mutations in epigenetic regulation genes. none
[ July 11, 2018 ] Biocept Prices Subscription Rights to Purchase $25M of Securities cancer
[ July 10, 2018 ] Biodesix Buy Provides Commercial Path Forward for Indi XL2 Lung Nodule Test cancer

Penn study demonstrates genes' major role in skin and organ development

September 16, 2015 admin 0

Knocking out one or both crucial regulatory genes caused cleft lip, skin barrier defects, and a host of other developmental problems in mice, according to new research from the Perelman School of… Source: Recent MedGen […]

10K genomes project explores contribution of rare variants to human disease and risk factors

September 16, 2015 admin 0

The largest population genome sequencing effort to date is published today in Nature. Source: Recent MedGen News