Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
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DOI: 10.1002/mgg3.1997
Abstract: Next‐generation sequencing (NGS)‐based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently,… read more here.
Keywords: bulgarian patients; mutations bulgarian; inherited retinal; next generation ... See more keywords
Islet, thyroid and transglutaminase antibodies in adult Bulgarian patients with type 1 diabetes
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DOI: 10.1007/s12020-020-02395-1
Abstract: Aim The aim of the study was to assess the prevalence and relationship of islet antibodies and autoantibodies of the most common associated autoimmune diseases—autoimmune thyroid disease (AITD) and celiac disease, in adult Bulgarian patients… read more here.
Keywords: patients type; transglutaminase antibodies; islet; adult bulgarian ... See more keywords
Major adverse cardiovascular events in bulgarian patients with chronic coronary syndrome
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DOI: 10.4103/njcp.njcp_33_22
Abstract: Background: In primary prevention, most guidelines rely on atherosclerotic cardiovascular disease risk assessment to determine the appropriateness and intensity of risk factor modification. Aims: This study aimed to analyze the prognostic role of risk factors,… read more here.
Keywords: bulgarian patients; adverse cardiovascular; patients chronic; chronic coronary ... See more keywords
Frequency Distribution of CYP2C9 and VKORC1 Mutations among Bulgarian Patients and their Importance for Anticoagulant Therapy.
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DOI: 10.7754/clin.lab.2022.220213
Abstract: BACKGROUND Genetic polymorphisms of CYP2C9 and VKORC1 play a major role in pharmacokinetics and pharmacodynamics of coumarin anticoagulants. The purpose of our study was to assess the relative frequency of the above mutations in Bulgarian… read more here.
Keywords: cyp2c9 vkorc1; bulgarian patients; frequency; cyp2c9 ... See more keywords