Sfoglia per Autore
The child with overgrowth between clinical variability and genetic heterogeneity
2020-01-01 Serra G.; Schierz M.; Antona V.; Giardina C.F.; Giuffre M.; Piro E.; Corsello G.
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020-01-01 Piro E.; Serra G.; Antona V.; Giuffre M.; Giorgio E.; Sirchia F.; Schierz I.A.M.; Brusco A.; Corsello G.
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital
2020-01-01 Piro, Ettore; Serra, Gregorio; Schierz, Ingrid Anne Mandy; Giuffrè, Mario; Corsello, Giovanni
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020-01-01 Serra G.; Corsello G.; Antona V.; D'Alessandro M.M.; Cassata N.; Cimador M.; Giuffre M.; Schierz I.A.M.; Piro E.
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
2021-01-01 Piro E.; Serra G.; Giuffre M.; Schierz I.A.M.; Corsello G.
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations
2021-01-01 Serra G.; Memo L.; Coscia A.; Giuffre M.; Iuculano A.; Lanna M.; Valentini D.; Contardi A.; Filippeschi S.; Frusca T.; Mosca F.; Ramenghi L.A.; Romano C.; Scopinaro A.; Villani A.; Zampino G.; Corsello G.
Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents
2021-01-01 Serra G.; Lo Scalzo L.; Giuffre M.; Ferrara P.; Corsello G.
Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study
2021-01-01 Savarino G.; Carta M.; Cimador M.; Corsello A.; Giuffre M.; Schierz I.A.M.; Serra G.; Corsello G.
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town
2021-01-01 Serra G.; Antona V.; D'Alessandro M.M.; Maggio M.C.; Verde V.; Corsello G.
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
2021-01-01 Serra G.; Memo L.; Antona V.; Corsello G.; Favero V.; Lago P.; Giuffre M.
Il neonato che “sa di sale”
2021-02-01 GREGORIO SERRA, VINCENZO ANTONA, MARIA D’ALESSANDRO, MARIA CRISTINA MAGGIO, GIOVANNI CORSELLO
THE “SALT-TASTING” NEWBORN
2021-02-01 GREGORIO SERRA, VINCENZO ANTONA, MARIA D’ALESSANDRO, MARIA CRISTINA MAGGIO, GIOVANNI CORSELLO
Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”
2021-06-01 CLAUDIA SCIARROTTA, GREGORIO SERRA, MANDY SCHIERZ, GIOVANNI CORSELLO
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
2021-09-28 Serra, Gregorio; Antona, Vincenzo; Giuffré, Mario; Li Pomi, Federica; Lo Scalzo, Lucia; Piro, Ettore; Schierz, Ingrid Anne Mandy; Corsello, Giovanni
The social role of pediatrics in the past and present times
2021-12-18 Gregorio Serra; Mario Giuffrè; Ettore Piro; Giovanni Corsello
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
2022-01-01 Schierz I.A.M.; Giuffre M.; Cimador M.; D'Alessandro M.M.; Serra G.; Favata F.; Antona V.; Piro E.; Corsello G.
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 profiles
2022-03-04 Serra G.; Antona V.; Giuffre M.; Piro E.; Salerno S.; Schierz I.A.M.; Corsello G.
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2K2 gene
2022-05-01 Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Ettore Piro, Giovanni Corsello
Quando l’amnios si rompe troppo presto e… da solo
2022-06-01 GREGORIO SERRA, VINCENZO ANTONA, ANTONIO CORSELLO, FEDERICA LI POMI, MARIA ROSARIA LA BIANCA, GIOVANNI CORSELLO
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022-07-29 Serra, Gregorio; Antona, Vincenzo; Cannata, Chiara; Giuffre, Mario; Piro, Ettore; Schierz, Ingrid Anne Mandy; Corsello, Giovanni
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