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Daniela Avdjieva-Tzavella

Sofia Medical University

15

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41

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Results from the Implementation of a Growth Disorders Related Twinning Programme (Partners4Growth) at tertiary pediatric endocrinology clinics

2021
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Twodimensional Shear-wave Elastography for Assessment of Liver Fibrosis in Children

2021
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Comprehensive Genetic Evaluation of Children With Syndromic Craniosynostosis by a Combination of Cytogenetics, Multiplex Ligation-dependent Probe Amplification and Array-based Comparative Genomic Hybridisation

2021
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Results of enzyme replacement therapy in Bulgarian patients with a severe form of hunter syndrome: A 42-month follow-up

2018
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Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

2018 Gene
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Barth Syndrome in Male and Female Siblings Caused by a Novel Mutation in the Taz Gene

2016 Genetic Counseling
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FIRST BULGARIAN CASE OF CITRIN DEFICIENCY CAUSED BY ONE NOVEL AND ONE RECURRENT MUTATION IN THE SLC25A13 GENE

2014 Genetic Counseling
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Benign and Unknown Copy Number Variations in Bulgarian Patients with Intellectual Disability and Congenital Malformations

2013 Biotechnology & Biotechnological Equipment
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Mitochondrial DNA Mutations in Two Bulgarian Children with Autistic Spectrum Disorders

2012 Balkan Journal of Medical Genetics
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Comparison of Two Microarray CGH Platforms for Genome-Wide Copy Number Profilings: Oligo-Based Arrays Versus Bacterial Artificial Chromosome Arrays

2011 Biotechnology & Biotechnological Equipment
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