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Congenital Anomalies|August 12, 2014
408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier statusGabriele Tonni, Maria Bellotti, Marcella Palmisano, et al.
Experimental Dermatology|April 20, 2018
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patientsAndrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, et al.
Progress in Neuro-Psychopharmacology & Biological Psychiatry|February 24, 2019
Copy number variants in autism spectrum disordersStefano Vicari, Eleonora Napoli, Viviana Cordeddu, et al.
European Journal of Medical Genetics|February 5, 2017
Reassessment of the 12q15 deletion syndrome critical regionViola Alesi, Sara Loddo, Marta Grispo, et al.
Brain Sciences|February 25, 2022
Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type IIFrancesco Nicita, Letizia Sabatini, Viola Alesi, et al.
International Journal of Molecular Sciences|March 6, 2021
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5DViola Alesi, Francesca Sessini, Silvia Genovese, et al.
International Journal of Molecular Sciences|March 27, 2019
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) SyndromeKyle W Davis, Moises Serrano, Sara Loddo, et al.
Molecular Genetics & Genomic Medicine|March 28, 2019
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardationEmanuela Ponzi, Viola Alesi, Francesca R Lepri, et al.
American Journal of Medical Genetics. Part A|June 6, 2014
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityEric R Londin, Jeffrey Adijanto, Nancy Philp, et al.
American Journal of Medical Genetics. Part A|December 22, 2015
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndromeFrancesca Clementina Radio, Maria Cristina Digilio, Rossella Capolino, et al.
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