Found: 24
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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
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- Publication type:
- Article
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x
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- Publication type:
- Article
Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 1, p. 55, doi. 10.1111/j.1399-0004.1991.tb02985.x
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- Publication type:
- Article
Is C-Reactive Protein a Reliable Indicator of Bacterial Infection in the Newborn?
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- Journal of Infectious Diseases, 1989, v. 160, n. 5, p. 909, doi. 10.1093/infdis/160.5.909
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- Publication type:
- Article
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01530-8
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- Publication type:
- Article
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115
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- Publication type:
- Article
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01336-0
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- Publication type:
- Article
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01281-y
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- Publication type:
- Article
Social media use to improve communication on children and adolescent's health: the role of the Italian Paediatric Society influencers.
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- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01111-7
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- Publication type:
- Article
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01108-2
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- Publication type:
- Article
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.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01044-1
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- Publication type:
- Article
Management of pediatric post-infectious neurological syndromes.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00968-y
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- Publication type:
- Article
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
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- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0418-0
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- Publication type:
- Article
Neurophysiological monitoring in neonatal abstinence syndrome from cocaine.
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- Annali dell'Istituto Superiore di Sanita, 2020, v. 56, n. 3, p. 390, doi. 10.4415/ANN_20_03_18
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- Publication type:
- Article
Bovine Lactoferrin Supplementation for Prevention of Late-Onset Sepsis in Very Low-Birth-Weight Neonates.
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- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 13, p. 1421, doi. 10.1001/jama.2009.1403
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- Publication type:
- Article
Group B streptococcus late-onset disease,contaminated breast milk and mothers persistently GBS negative: report of 3cases.
- Published in:
- 2018
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- Publication type:
- journal article
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
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- Publication type:
- Article
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1358334
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- Publication type:
- Article
Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 84, doi. 10.1002/ajmg.a.62990
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- Publication type:
- Article
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00937-x
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- Publication type:
- Article
Media use during adolescence: the recommendations of the Italian Pediatric Society.
- Published in:
- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0725-8
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- Publication type:
- Article
A consensus conference report on defining the eligibility criteria for pediatric palliative care in Italy.
- Published in:
- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0681-3
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- Publication type:
- Article
Media devices in pre-school children: the recommendations of the Italian pediatric society.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0508-7
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- Publication type:
- Article