about
Exon first nucleotide mutations in splicing: evaluation of in silico prediction toolsRapid identification of medically important Candida isolates using high resolution melting analysisFunctional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population.The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.Association between low levels of Mannan-binding lectin and markers of autoimmune thyroid disease in pregnancyDiffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.Detection of Cardiobacterium valvarum in a patient with aortic valve infective endocarditis by broad-range PCR.Remote ischaemic preconditioning in coronary artery bypass surgery: a meta-analysis.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report.Familial hypercholesterolaemia: A global call to arms.Association between surgical indications, operative risk, and clinical outcome in infective endocarditis: a prospective study from the International Collaboration on Endocarditis.One-year outcome following biological or mechanical valve replacement for infective endocarditis.Myocardial injury is decreased by late remote ischaemic preconditioning and aggravated by tramadol in patients undergoing cardiac surgery: a randomised controlled trial.Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR.Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.Monitoring of CD38high expression in peripheral blood CD8+ lymphocytes in patients after kidney transplantation as a marker of cytomegalovirus infection.X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission.An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.Differentiation of Staphylococcus spp. by high-resolution melting analysis.Value of PCR in surgically treated patients with staphylococcal infective endocarditis: a 4-year retrospective study.Response to Letter Regarding Article, "Association Between Surgical Indications, Operative Risk, and Clinical Outcome in Infective Endocarditis: A Prospective Study From the International Collaboration on Endocarditis".Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia.Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy.Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis.Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.Genotypic versus phenotypic methods in the detection of Listeria monocytogenes prosthetic joint infection.Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedemaFive novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedemaMannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiencyDiffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapySkin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion casesNo evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 geneNo association of FCRN promoter VNTR polymorphism with the rate of maternal-fetal IgG transfer
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wetenschapper
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հետազոտող
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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T Freiberger
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P106
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P31
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0000-0001-6532-7053
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