Accueil
Fabrizia Restaldi
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