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Journal of Sleep Research|February 19, 2025
The art of sleep: examining sleep strategies in the general population with a focus on the use of music for sleepRasmus Møller Buus, Silvia Genovese, Kira Vibe Jespersen
Oncology Letters|January 27, 2017
Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosisGuglielmo Salvatori, Silvia Foligno, Pietro Sirleto, et al.
Orphanet Journal of Rare Diseases|January 15, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosisAndrea Diociaiuti, May El Hachem, Elisa Pisaneschi, 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.
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.
BMC Medical Genetics|September 4, 2015
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codonElisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, et al.
Annals of Human Genetics|October 11, 2018
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeViola Alesi, Maria Lisa Dentici, Sara Loddo, et al.
The Journal of Molecular Diagnostics : JMD|February 1, 2015
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitisAnna C Tomaiuolo, Valentina M Sofia, Cecilia Surace, et al.
European Journal of Human Genetics : EJHG|July 25, 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Molecular Cytogenetics|June 22, 2019
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benignFabrizia Restaldi, Viola Alesi, Angela Aquilani, et al.
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