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Stefania Rassu

Researcher at University of Cagliari

Publications -  7
Citations -  307

Stefania Rassu is an academic researcher from University of Cagliari. The author has contributed to research in topics: Human leukocyte antigen & Population. The author has an hindex of 3, co-authored 5 publications receiving 216 citations.

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Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

TL;DR: Two unrelated male patients with de novo translocations, autistic behaviour and psychomotor delay carry a balanced chromosome translocation containing the CSMD3 gene, which thereby can be considered as a candidate for ASDs.
Journal ArticleDOI

Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes

TL;DR: The first case of mosaic supernumerary marker iso (8p) displaying a karyotype discordance between chorionic villi and amniotic fluid (AF) cultures during prenatal cytogenetic diagnosis is described.