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List of works by Konstantinos Douroudis

Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population

scientific article

Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates

scientific article published on 17 April 2009

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

scientific article published on April 2015

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Identification of seven loci affecting mean telomere length and their association with disease

scientific article published on April 2013

Phenotypic variability of TRPV4 related neuropathies

scientific article published on 18 March 2015

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

SCP2 mutations and neurodegeneration with brain iron accumulation

scientific article

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

scientific article published on 10 May 2015

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