prof. MUDr. Tomáš Freiberger, Ph.D.
Professor, Department of Clinical Immunology and Allergology
Total number of publications: 289
2014
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Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, year: 2014, volume: 164, edition: 6, DOI
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Nový diagnostický algoritmus autosomálně dominantní hypercholesterolémie v ČR
Year: 2014, type: Conference abstract
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Protein folding disease: Familiar Hypercholesterolemia
Year: 2014, type: Conference abstract
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The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
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The variable clinical course of peripartum cardiomyopathy
Biomedical Papers, year: 2014, volume: 158, edition: 1, DOI
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Variant within the apolipoprotein B and its role in pseudo-FH development
Year: 2014, type: Conference abstract
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X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report
BIOMEDICAL PAPERS-OLOMOUC, year: 2014, DOI
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X-Linked agammaglobulinemia in a child with Klinefelter’s syndrome
JOURNAL OF CLINICAL IMMUNOLOGY, year: 2014, volume: 34, edition: 2, DOI