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The list of publications is indicative and may not include all publications.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study..
Hum Mutat. 31(4), 380-90.
(2010).
A patient with Lemierre syndrome..
Eur J Pediatr.
(2010).
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype..
Hum Mutat. 31(3), E1241-50.
(2010).
Eponym: the Lemierre syndrome..
Eur J Pediatr. 169(4), 411-4.
(2010).
A patient with Lemierre syndrome..
Eur J Pediatr. 169(4), 491-3.
(2010).
Childhood autism and auditory system abnormalities..
Pediatr Neurol. 42(5), 309-14.
(2010).
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis..
Brain. 133(Pt 6), 1810-22.
(2010).
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation..
Eur J Paediatr Neurol. 13(2), 191-3.
(2009).
Tyrosine hydroxylase deficiency with severe clinical course..
Mol Genet Metab. 97(1), 18-20.
(2009).
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients..
Radiology. 251(3), 856-65.
(2009).
Mesangioproliferative glomerulonephritis in an infant with Prader-Willi syndrome..
Hippokratia. 13(2), 125-6.
(2009).
Parental reports of health-related quality of life in greek children with neurofibromatosis type 1..
J Pediatr. 155(3), 453; author reply 454.
(2009).
The serotonergic system: its role in pathogenesis and early developmental treatment of autism..
Curr Neuropharmacol. 7(2), 150-7.
(2009).