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Human Mutation|July 29, 2011
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian familyFilomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boysMariagiulia Torrioli, Silvia Vernacotola, Chiara Setini, et al.
European Journal of Human Genetics : EJHG|September 15, 2020
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approachMaria Luisa Di Pietro, Drieda Zaçe, Alessia Orfino, et al.
The Journal of Clinical Investigation|December 8, 2015
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingRoland F R Schindler, Chiara Scotton, Jianguo Zhang, et al.
Frontiers in Genetics|July 29, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular DystrophyChiara Passarelli, Rita Selvatici, Alberto Carrieri, et al.
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