Roberto Falasca

Affiliations

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

Publications (3)

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

International journal of molecular sciences

Avec: Antonietta Lombardo , Lorenzo Sinibaldi , Silvia Genovese , Giorgia Catino , Valerio Mei , Daniele Pompili , Ester Sallicandro , Roberto Falasca , Maria Teresa Liambo , Maria Vittoria Faggiano , Maria Cristina Roberti , Maddalena Di Donato , Anna Vitelli , Serena Russo , Rosalinda Giannini , Alessia Micalizzi , Nicola Pietrafusa , Maria Cristina Digilio , Antonio Novelli , Lucia Fusco , Viola Alesi

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

American journal of medical genetics. Part A

Avec: Viola Alesi , Sara Loddo , Federica Calì , Valeria Orlando , Silvia Genovese , Daniele Ferretti , Chiara Calacci , Giusy Calvieri , Roberto Falasca , Lucia Ulgheri , Fabrizio Drago , Bruno Dallapiccola , Anwar Baban , Antonio Novelli

Case report: A new

Frontiers in genetics

Avec: Chiara Minotti , Ludovico Graziani , Ester Sallicandro , Maria Cristina Digilio , Roberto Falasca , Viola Alesi , Giuseppe Novelli , Maria Lisa Dentici , Sara Loddo , Antonio Novelli

Réseau de co-auteurs

Antonio Novelli 3 collaborations

Viola Alesi 3 collaborations

Silvia Genovese 2 collaborations

Ester Sallicandro 2 collaborations

Maria Cristina Digilio 2 collaborations

Sara Loddo 2 collaborations

Antonietta Lombardo 1 collaboration

Lorenzo Sinibaldi 1 collaboration

Giorgia Catino 1 collaboration

Valerio Mei 1 collaboration

Daniele Pompili 1 collaboration

Maria Teresa Liambo 1 collaboration

Maria Vittoria Faggiano 1 collaboration

Maria Cristina Roberti 1 collaboration

Maddalena Di Donato 1 collaboration

Anna Vitelli 1 collaboration

Serena Russo 1 collaboration

Rosalinda Giannini 1 collaboration

Alessia Micalizzi 1 collaboration

Nicola Pietrafusa 1 collaboration

Lucia Fusco 1 collaboration

Federica Calì 1 collaboration

Valeria Orlando 1 collaboration

Daniele Ferretti 1 collaboration

Chiara Calacci 1 collaboration

Giusy Calvieri 1 collaboration

Lucia Ulgheri 1 collaboration

Fabrizio Drago 1 collaboration

Bruno Dallapiccola 1 collaboration

Anwar Baban 1 collaboration

Chiara Minotti 1 collaboration

Ludovico Graziani 1 collaboration

Giuseppe Novelli 1 collaboration

Maria Lisa Dentici 1 collaboration