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Frontiers in Psychiatry|July 28, 2026
Clinical heterogeneity and diagnostic challenges in CASK-related neurodevelopmental disorders: a longitudinal observational studyIliyana Hristova Pacheva, Elena Timova, Tihomir Todorov, et al.
Human Mutation|August 9, 2005
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia ANadja Bogdanova, Arseni Markoff, Hartmut Pollmann, et al.
Cells|June 25, 2025
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide VariantsLyudmila Belenska-Todorova, Milen Zamfirov, Tihomir Todorov, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 2, 2024
Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsyPetia S Dimova, Dimitar Metodiev, Tihomir Todorov, et al.
Frontiers in Cardiovascular Medicine|November 29, 2023
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotypeMariana Gospodinova, Sashka Zhelyazkova, Teodora Chamova, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 2, 2015
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 geneSavina Tincheva, Tihomir Todorov, Albena Todorova, et al.
Gene|April 15, 2019
Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosisIglika Yordanova, Zornitza Pavlova, Andrey Kirov, et al.
Human Molecular Genetics|March 7, 2007
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy lossNadia Bogdanova, Jürgen Horst, Marcin Chlystun, et al.
Genes|July 29, 2025
Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin AmyloidosisZornitsa Pavlova, Sashka Zhelyazkova, Mariana Gospodinova, et al.
European Neurology|February 25, 2016
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type CTeodora Chamova, Andrey Kirov, Velina Guergueltcheva, et al.
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