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Biomolecules|May 27, 2023
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated RearrangementsViola Alesi, Silvia Genovese, Francesca Romana Lepri, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profileViola Alesi, Sara Loddo, Valeria Orlando, et al.
American Journal of Medical Genetics. Part A|November 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic SpectrumVito Luigi Colona, Maria Gnazzo, Silvia Genovese, et al.
European Journal of Human Genetics : EJHG|May 17, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variantFrancesco Nicita, Fabrizia Stregapede, Federica Deodato, et al.
Molecular Medicine (Cambridge, Mass.)|June 7, 2016
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitisValentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, et al.
American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.
BMC Cancer|November 5, 2015
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastomaSimona Grotta, Gemma D'Elia, Rossana Scavelli, et al.
Plos One|November 19, 2013
Biological, functional and genetic characterization of bone marrow-derived mesenchymal stromal cells from pediatric patients affected by acute lymphoblastic leukemiaAntonella Conforti, Simone Biagini, Francesca Del Bufalo, et al.
American Journal of Medical Genetics. Part A|March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patientsMaria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
Disease Models & Mechanisms|March 13, 2023
HuR modulation counteracts lipopolysaccharide response in murine macrophagesIsabelle Bonomo, Giulia Assoni, Valeria La Pietra, et al.
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