Showing 1 - 20 results of 31 for search 'Ettore Piro', query time: 0.12s
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Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder by Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello
Published 2022Connect to this object online.
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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene by Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Published 2022Connect to this object online.
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Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic pro... by Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello
Published 2022Connect to this object online.
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New insights in pediatrics in 2021: choices in allergy and immunology, critical care, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, neur... by Carlo Caffarelli, Francesca Santamaria, Ettore Piro, Simona Basilicata, Valeria Delle Cave, Marilena Cipullo, Sergio Bernasconi, Giovanni Corsello
Published 2022Connect to this object online.
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13
Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neo... by Carlo Caffarelli, Francesca Santamaria, Ettore Piro, Simona Basilicata, Lorenzo D'Antonio, Bertrand Tchana, Sergio Bernasconi, Giovanni Corsello
Published 2023Connect to this object online.
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Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report by Ingrid Anne Mandy Schierz, Marcello Cimador, Mario Giuffrè, Claudia Maria Aiello, Vincenzo Antona, Giovanni Corsello, Ettore Piro
Published 2020Connect to this object online.
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Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene by Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione
Published 2022Connect to this object online.
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17
Case Report: Unusual Clinical Presentation of a Rare Cardiac Inflammatory Myofibroblastic Tumor in Children: The Differential Diagnosis With Pediatric Emergencies by Clio Bilotta, Giulio Perrone, Emiliano Maresi, Giovanni De Lisi, Pietro Di Pasquale, Ettore Piro, Antonina Argo, Stefania Zerbo
Published 2021Connect to this object online.
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18
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up by Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Published 2021Connect to this object online.
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Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects by Raffaele Falsaperla, Filadelfo Lombardo, Federica Filosco, Catia Romano, Marco Andrea Nicola Saporito, Federica Puglisi, Ettore Piro, Martino Ruggieri, Piero Pavone
Published 2020Connect to this object online.
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20
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient by Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello
Published 2020Connect to this object online.
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