At the Human Amyloid Imaging (HAI) meeting, held January 15-17, researchers focused on new techniques—all based on tau and ...

The 'Survivor' legend gets into the relationships she formed with reality TV newbie and veteran alike, calling David Genat ...

NETO was millimetres away from an Arsenal debut from hell in Girona. On his first appearance for the Gunners – 152 days after a deadline day loan move from Bournemouth – the Brazilian goalie ...

In this study, non-directiveness applies to the approach of the counselling team towards family members besides the proband. When a BRCA1/2 gene mutation is found in a family, the possibility of ...

7355G>A]. The second family identified [NC_000017.11(NM_001042492.2):c.2739_2740del]. According to genotype-phenotype correlation analyses, proband with frameshift mutation tended to have a larger ...

Genetic testing of the proband, the first patient identified in a family with DCM, within the context of genetic counselling is always indicated, regardless of whether the DCM is familial or ...

Currently, correct classification of a proband’s PWS/AS subtype often requires parental samples, a costly process for families and health systems. The use of nanopore sequencing for molecular ...

Whole-genome-sequencing was performed on a family (proband and father) with AD SAN. A pathogenic nonsense (Arg715Ter) variant was detected and confirmed on sanger sequencing. They presented with a SAN ...

5 Centre for Applied Health Economics, School of Medicine, Griffith University, Brisbane, Australia 6 Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Australia 7 Department of ...

Researchers provided a long-awaited and rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a type of ...

You have full access to this article via your institution. Since our initial study, we have not found any additional TACI coding variants in 34 individuals with IgAD, as determined by genomic ...