Publications by authors named "Aldo Skabar"

13Publications

Home Intranasal Dexmedetomidine for Refractory Dystonia in Pediatric Palliative Care.

J Pain Symptom Manage 2020 06 5;59(6):e3-e5. Epub 2020 Mar 5.

University of Trieste, Trieste, Italy; Pediatric Department, Institute for Maternal and Child Health Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1016/j.jpainsymman.2020.02.022DOI Listing
June 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Child with intermittent diplopia after otitis media.

Arch Dis Child Educ Pract Ed 2020 10 1;105(5):306-307. Epub 2019 Feb 1.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://ep.bmj.com/lookup/doi/10.1136/archdischild-2018-31630
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http://dx.doi.org/10.1136/archdischild-2018-316307DOI Listing
October 2020

Adolescent with unilateral vision loss.

Arch Dis Child Educ Pract Ed 2020 06 7;105(3):174-176. Epub 2019 Jan 7.

Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1136/archdischild-2018-316153DOI Listing
June 2020

Somatic symptom disorder was common in children and adolescents attending an emergency department complaining of pain.

Acta Paediatr 2017 Apr 27;106(4):586-593. Epub 2017 Jan 27.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1111/apa.13741DOI Listing
April 2017

CTNND2 deletion and intellectual disability.

Gene 2015 Jul 1;565(1):146-9. Epub 2015 Apr 1.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.03.054DOI Listing
July 2015

Propranolol for cerebral cavernous angiomatosis: a magic bullet.

Clin Pediatr (Phila) 2014 Feb 25;53(2):189-90. Epub 2013 Jun 25.

1Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1177/0009922813492885DOI Listing
February 2014

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Am J Med Genet A 2012 Apr 9;158A(4):882-7. Epub 2012 Mar 9.

S.C. Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.35239
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http://dx.doi.org/10.1002/ajmg.a.35239DOI Listing
April 2012

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Gene 2012 Jan 28;492(1):315-8. Epub 2011 Oct 28.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S037811191100612
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http://dx.doi.org/10.1016/j.gene.2011.10.035DOI Listing
January 2012

Neuromotor deficits in developmental coordination disorder: evidence from a reach-to-grasp task.

Res Dev Disabil 2011 Jul-Aug;32(4):1293-300. Epub 2011 Mar 5.

Child Neurology and Psychiatry Unit, Institute for Maternal and Child Health, I.R.C.C.S. Burlo Garofolo, via Dell'Istria 65/1, Trieste 34127, Italy.

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http://dx.doi.org/10.1016/j.ridd.2011.02.007DOI Listing
October 2011