List of works - Jesus Eirís

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novoSOX5deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

scientific article published on 02 April 2015

Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients

scientific article published in April 2008

Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients

scientific article published on 24 April 2014

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

scientific article

Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene

scientific article published on 5 November 2009

Cerebral oxygenation in children with syncope during head-upright tilt test.

scientific article published in November 1997

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

scientific article published on 21 April 2015

Copy number variation analysis of patients with intellectual disability from North-West Spain.

scientific article published on 12 May 2017

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome

scientific article published on 01 November 2006

Effects of long-term treatment with antiepileptic drugs on serum lipid levels in children with epilepsy

scientific article published on 01 June 1995

Hypomelanosis of Ito: autism, segmental dilatation of colon and unusual neuroimaging findings

scientific article published in January 1997

Immune globulin G for treatment of opsoclonus-polymyoclonus syndrome

scientific article published on 01 July 1996

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

article

Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation ⬇️

scientific article published on November 1, 2001

Severe myoclonic epilepsy associated with mitochondrial cytopathy

scientific article published on 01 November 1995

Syncope and seizures: it is time for evidence!

scientific article published on 01 September 2000

The effects on lipid and apolipoprotein serum levels of long-term carbamazepine, valproic acid and phenobarbital therapy in children with epilepsy

scientific article published on 01 August 2000

[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]

scientific article published on 01 June 1998

[Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain]]

scientific article published on 01 November 2000

[Late infantile and juvenile form of GM2-gangliosidosis variant B1]

scientific article published on 01 September 1999

[Migraine in childhood and adolescence: a retrospective review of hospital cases]

scientific article published on 01 July 1995

List of works by Jesus Eirís