Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion

por Milone, Roberta, Ferrari, Anna Rita, Pasquariello, Rosa, Bargagna, Stefania
Publicado 2016

Structural brain damage and visual disorders in children with cerebral palsy due to periventricular leukomalacia

por Tinelli, Francesca, Guzzetta, Andrea, Purpura, Giulia, Pasquariello, Rosa, Cioni, Giovanni, Fiori, Simona
Publicado 2020

De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability

por Milone, Roberta, Scalise, Roberta, Pasquariello, Rosa, Berloffa, Stefano, Ricca, Ivana, Battini, Roberta
Publicado 2021

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

por Della Vecchia, Stefania, Milone, Roberta, Cagiano, Romina, Calderoni, Sara, Santocchi, Elisa, Pasquariello, Rosa, Battini, Roberta, Muratori, Filippo
Publicado 2021

Further characterization of NFIB ‐associated phenotypes: Report of two new individuals

por Marinella, Gemma, Conti, Eugenia, Buchignani, Bianca, Sgherri, Giada, Pasquariello, Rosa, Giordano, Flavio, Cristofani, Paola, Battini, Roberta, Battaglia, Agatino
Publicado 2022

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

por Battini, Roberta, Bertelloni, Silvano, Astrea, Guja, Casarano, Manuela, Travaglini, Lorena, Baroncelli, Giampiero, Pasquariello, Rosa, Bertini, Enrico, Cioni, Giovanni
Publicado 2015

Neural Changes Induced by a Speech Motor Treatment in Childhood Apraxia of Speech: A Case Series

por Fiori, Simona, Pannek, Kerstin, Podda, Irina, Cipriani, Paola, Lorenzoni, V., Franchi, Beatrice, Pasquariello, Rosa, Guzzetta, Andrea, Cioni, Giovanni, Chilosi, Anna
Publicado 2021

Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach

por Fiori, Simona, Guzzetta, Andrea, Mitra, Jhimli, Pannek, Kerstin, Pasquariello, Rosa, Cipriani, Paola, Tosetti, Michela, Cioni, Giovanni, Rose, Stephen E, Chilosi, Anna
Publicado 2016

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab

por Scaffei, Elena, Buchignani, Bianca, Pasquariello, Rosa, Cristofani, Paola, Canapicchi, Raffaello, Biagi, Laura, Giordano, Flavio, De Marco, Emanuela, Crow, Yanick J., Battini, Roberta
Publicado 2023

Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective

por Chilosi, Anna Maria, Podda, Irina, Ricca, Ivana, Comparini, Alessandro, Franchi, Beatrice, Fiori, Simona, Pasquariello, Rosa, Casalini, Claudia, Cipriani, Paola, Santorelli, Filippo Maria
Publicado 2022

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

por Astrea, Guja, Pezzini, Ilaria, Picillo, Ester, Pasquariello, Rosa, Moro, Francesca, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, Politano, Luisa, Santorelli, Filippo Maria
Publicado 2016

Expanding the clinical and genetic heterogeneity of SPAX5

por Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Publicado 2020

Clinical, molecular and glycophenotype insights in SLC39A8-CDG

por Bonaventura, Eleonora, Barone, Rita, Sturiale, Luisa, Pasquariello, Rosa, Alessandrì, Maria Grazia, Pinto, Anna Maria, Renieri, Alessandra, Panteghini, Celeste, Garavaglia, Barbara, Cioni, Giovanni, Battini, Roberta
Publicado 2021

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

por Marinella, Gemma, Orsini, Alessandro, Scacciati, Massimo, Costa, Elisa, Santangelo, Andrea, Astrea, Guja, Frosini, Silvia, Pasquariello, Rosa, Rubegni, Anna, Sgherri, Giada, Corsi, Martina, Bonuccelli, Alice, Battini, Roberta
Publicado 2023

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

por Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E., Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M., Battini, Roberta
Publicado 2022