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American Journal of Medical Genetics. Part A|April 30, 2025
Cardiological Manifestations in Males and Females Affected by NAA10-Related DiseaseIrene Bottillo, Chiara De Luca, Angela Cordella, et al.
European Journal of Human Genetics : EJHG|December 18, 2022
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?Irene Bottillo, Emanuele Savino, Silvia Majore, et al.
Biology|February 26, 2025
Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental DesignIrene Bottillo, Alessandro Sciarra, Giulio Bevilacqua, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|July 26, 2024
Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypesIrene Bottillo, Carla Giordano, Maria Pia Ciccone, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|August 8, 2016
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature reviewIrene Bottillo, Carla Giordano, Bruna Cerbelli, et al.
Clinical Genetics|July 3, 2025
Novel Pathogenic Variant Confirms the Association of REST and Jones SyndromeValentina Lodato, Massimo Galli, Giacomo D'Angeli, et al.
International Journal of Molecular Sciences|December 16, 2020
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition GenesPaola De Simone, Irene Bottillo, Michele Valiante, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
American Journal of Human Genetics|August 10, 2010
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndromeFrancesco Brancati, Paola Fortugno, Irene Bottillo, et al.
Frontiers in Oncology|March 29, 2020
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® PanelUmberto Malapelle, Francesco Pepe, Pasquale Pisapia, et al.
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