Fabrizia Restaldi

Affiliations

Department of Genetics, Bambino Gesù Children's Hospital, Rome, Italy.

Publications (2)

Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations.

Journal of medicine and life

Avec: Francesco Libotte , Sonia Lorena Carpineto , Claudio Dello Russo , Antonella Viola , Katia Margiotti , Fabrizia Restaldi , Antonio Novelli , Alvaro Mesoraca , Claudio Giorlandino

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Molecular cytogenetics

Avec: Fabrizia Restaldi , Viola Alesi , Angela Aquilani , Silvia Genovese , Serena Russo , Valentina Coletti , Daniele Pompili , Roberto Falasca , Bruno Dallapiccola , Rossella Capolino , Matteo Luciani , Antonio Novelli

Réseau de co-auteurs

Antonio Novelli 2 collaborations

Francesco Libotte 1 collaboration

Sonia Lorena Carpineto 1 collaboration

Claudio Dello Russo 1 collaboration

Antonella Viola 1 collaboration

Katia Margiotti 1 collaboration

Alvaro Mesoraca 1 collaboration

Claudio Giorlandino 1 collaboration

Viola Alesi 1 collaboration

Angela Aquilani 1 collaboration

Silvia Genovese 1 collaboration

Serena Russo 1 collaboration

Valentina Coletti 1 collaboration

Daniele Pompili 1 collaboration

Roberto Falasca 1 collaboration

Bruno Dallapiccola 1 collaboration

Rossella Capolino 1 collaboration

Matteo Luciani 1 collaboration