about
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical PharmacogenomicsThe Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human FibroblastsSevere Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification.Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.Detection of mutations by flow cytometric melting point analysis of PCR products.TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.Relative anterior microphthalmos in oculodentodigital dysplasia.A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.[Transthyretin familial amyloid polyneuropathy - three Hungarian cases with rare mutations (His88Arg and Phe33Leu)].Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis.A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients.Analysis of the population heterogeneity in Hungary using fifteen forensically informative STR markers.The c.-133A > G polymorphism in NPC1L1 gene influences the efficacy of ezetimibe monotherapy on apolipoprotein A1 in hyperlipidemic patients.Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosisFactor V Leiden as a risk factor for miscarriage and reduced fertilityVal34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophiliaEffect of Val34Leu polymorphism on the activation of the coagulation factor XIII-ARisk for venous thrombosis in autoimmune diseases with antiphospholipid antibodies and factor V Leiden mutation among Hungarian patientsThe frequency of the haemochromatosis C282Y mutation in the ethnic Hungarian and Romany populations of eastern HungaryHigh frequency of factor V Leiden mutation and prothrombin 20210A variant in Romanies of Eastern HungaryA modified, optimized kinetic photometric assay for the determination of blood coagulation factor XIII activity in plasmaThe Leiden mutation of coagulation factor V in Hungarian SLE patientsMembranous glomerulonephritis in a patient with inherited activated protein C resistanceHypercoagulability in various autoimmune diseases: no association with factor V Leiden mutationPublic health approach to activated protein C resistance assayHigh prevalence of factor V Leiden mutation and 20210A prothrombin variant in HungarySevere coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 geneThe P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe
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P50
description
researcher ORCID ID = 0000-0003-3397-2829
@en
wetenschapper
@nl
name
Istvan Balogh
@ast
Istvan Balogh
@en
Istvan Balogh
@es
Istvan Balogh
@nl
type
label
Istvan Balogh
@ast
Istvan Balogh
@en
Istvan Balogh
@es
Istvan Balogh
@nl
prefLabel
Istvan Balogh
@ast
Istvan Balogh
@en
Istvan Balogh
@es
Istvan Balogh
@nl
P106
P31
P496
0000-0003-3397-2829