Risultati ricerca pubblicazioni

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2020
Pascolini G., Valiante M., Bottillo I., Laino L., Fleischer N., Ferraris A., Grammatico P.

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

pubblicato su: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - 2018
Pascolini Giulia, Agolini Emanuele, Majore Silvia, Novelli Antonio, Grammatico Paola, Digilio Maria Cristina

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