Aldo Skabar

Aldo Skabar

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Aldo Skabar

Aldo Skabar

Publications by authors named "Aldo Skabar"

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11Publications

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

Nat Commun 2019 Jul 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 2019 Feb 1. 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
February 2019

Adolescent with unilateral vision loss.

Arch Dis Child Educ Pract Ed 2019 Jan 7. 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
January 2019

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