43 results on '"Giuffrè Mario"'
Search Results
2. Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
3. New and old criteria for diagnosing celiac disease: do they really differ? A retrospective observational study
4. Report and follow-up on two new patients with congenital mesoblastic nephroma
5. Antibiotic prophylaxis for ophthalmia neonatorum in Italy: results from a national survey and the Italian intersociety new position statements
6. New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
7. Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
8. Epstein-Barr virus-associated acute pancreatitis: a clinical report and review of literature
9. 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
10. 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
11. Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
12. Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
13. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
14. Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction
15. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene
16. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
17. The social role of pediatrics in the past and present times
18. Analysis of risk and prognostic factors in a population of pediatric patients hospitalized for acute malnutrition at the Chiulo hospital, Angola
19. Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
20. Candida thrombophlebitis in children: a systematic review of the literature
21. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
22. Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report
23. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
24. Growth patterns and associated risk factors of congenital malformations in twins
25. Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital
26. Recognizable neonatal clinical features of aplasia cutis congenita
27. Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses
28. Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study
29. Management of multiple pregnancy with an affected twin
30. Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents
31. Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
32. Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study
33. Etiological heterogeneity and clinical variability in newborns with esophageal atresia
34. Congenital cytomegalovirus related intestinal malrotation: a case report
35. Intellectual disabilitiy in developmental age
36. Healthcare associated pathogens in a changing world
37. Epidemiology of Toxoplasma and CMV serology and of GBS colonization in pregnancy and neonatal outcome in a Sicilian population
38. Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
39. Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
40. Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study
41. Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
42. Epstein-Barr virus-associated acute pancreatitis: a clinical report and review of literature
43. Growth patterns and associated risk factors of congenital malformations in twins
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