Found: 32
Select item for more details and to access through your institution.
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS.
- Published in:
- Euromediterranean Biomedical Journal, 2020, v. 15, p. 116, doi. 10.3269/1970-5492.2020.15.29
- By:
- Publication type:
- Article
MICROCEPHALY AND MACROCEPHALY. A STUDY ON ANTHROPOMETRIC AND CLINICAL DATA FROM 308 SUBJECTS.
- Published in:
- Euromediterranean Biomedical Journal, 2019, v. 14, p. 134, doi. 10.3269/1970-5492.2019.14.31
- By:
- Publication type:
- Article
FETAL GROWTH RESTRICTION: A GROWTH PATTERN WITH FETAL, NEONATAL AND LONG-TERM CONSEQUENCES.
- Published in:
- Euromediterranean Biomedical Journal, 2019, v. 14, p. 38, doi. 10.3269/1970-5492.2019.14.09
- By:
- Publication type:
- Article
THE IMPACT OF GENETIC DISEASES ON NEONATAL AND PEDIATRIC CARE.
- Published in:
- Euromediterranean Biomedical Journal, 2019, v. 14, p. 139, doi. 10.3269/1970-5492.2019.14.32
- By:
- Publication type:
- Article
Coronary Artery Fistula in Down Syndrome: A Hidden Association.
- Published in:
- Journal of Ultrasound in Medicine, 2017, v. 36, n. 6, p. 1282, doi. 10.7863/ultra.16.08019
- By:
- Publication type:
- Article
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, p. 1, doi. 10.1186/s13052-024-01632-x
- By:
- Publication type:
- Article
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 6, p. 1, doi. 10.1002/ccr3.4289
- By:
- Publication type:
- Article
An unusual association of left‐sided gastroschisis and persistent right umbilical vein.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 12, p. 2511, doi. 10.1002/ccr3.1897
- By:
- Publication type:
- Article
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00922-4
- By:
- Publication type:
- Article
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00903-7
- By:
- Publication type:
- Article
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00902-8
- By:
- Publication type:
- Article
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00901-9
- By:
- Publication type:
- Article
Growth patterns and associated risk factors of congenital malformations in twins.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00838-z
- By:
- Publication type:
- Article
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00836-1
- By:
- Publication type:
- Article
Recognizable neonatal clinical features of aplasia cutis congenita.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0789-5
- By:
- Publication type:
- Article
Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0543-4
- By:
- Publication type:
- Article
Etiological heterogeneity and clinical variability in newborns with esophageal atresia.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-018-0445-5
- By:
- Publication type:
- Article
Report and follow-up on two new patients with congenital mesoblastic nephroma.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01523-7
- By:
- Publication type:
- Article
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.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01421-y
- By:
- Publication type:
- Article
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01404-5
- By:
- Publication type:
- Article
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.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01403-6
- By:
- Publication type:
- Article
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01365-9
- By:
- Publication type:
- Article
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01336-0
- By:
- Publication type:
- Article
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01329-z
- By:
- Publication type:
- Article
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01330-6
- By:
- Publication type:
- Article
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.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01232-7
- By:
- Publication type:
- Article
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.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01218-5
- By:
- Publication type:
- Article
Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01180-8
- By:
- Publication type:
- Article
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.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01152-y
- By:
- Publication type:
- Article
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #632 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
- By:
- Publication type:
- Article
Novel intronic polymorphisms in the RET proto?oncogene and their association with Hirschsprung diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #632 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
- By:
- Publication type:
- Article