Showing 1 - 20 results of 32 for search 'Gregorio Serra', query time: 0.12s
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Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town by Gregorio Serra, Vincenzo Antona, Maria Michela D'Alessandro, Maria Cristina Maggio, Vincenzo Verde, Giovanni Corsello
Published 2021Connect to this object online.
Book -
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Group B streptococcus colonization in pregnancy and neonatal outcomes: a three-year monocentric retrospective study during and after the COVID-19 pandemic by Gregorio Serra, Lucia Lo Scalzo, Maria Giordano, Mario Giuffrè, Pietro Trupiano, Renato Venezia, Giovanni Corsello
Published 2024Connect to this object online.
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10
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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Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study by Giovanni Savarino, Maurizio Carta, Marcello Cimador, Antonio Corsello, Mario Giuffrè, Ingrid Anne Mandy Schierz, Gregorio Serra, Giovanni Corsello
Published 2021Connect to this object online.
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17
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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18
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis by Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello
Published 2022Connect to this object online.
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19
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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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.
Book