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Epilepsy Research|January 29, 2013
15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in BulgariaAndrey Kirov, Petia Dimova, Albena Todorova, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|June 2, 2021
Characterization of population genetic structure of hereditary transthyretin amyloidosis in BulgariaZornitsa Pavlova, Stayko Sarafov, Tihomir Todorov, et al.
Biomedicines|July 27, 2024
CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOSRalitsa Robeva, Silvia Andonova, Tihomir Todorov, et al.
Neurogenetics|February 24, 2007
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patientsAlbena Todorova, Bilyana Georgieva, Ivailo Tournev, et al.
Mutation Research|April 25, 2012
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesisTihomir Todorov, Albena Todorova, Cristina Motoescu, et al.
International Journal of Molecular Sciences|September 14, 2024
A Cautionary Tale of Hypertrophic Cardiomyopathy-From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of LiteratureDolina Gencheva, Petya Angelova, Kameliya Genova, et al.
Frontiers in Psychiatry|May 8, 2026
Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case reportKaterina Gaberova, Iliyana Hristova Pacheva, Ralitsa Yordanova, et al.
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.
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.
The Journal of Pediatrics|September 20, 2016
Males with Paternally Inherited MKRN3 Mutations May Be AsymptomaticMihaela S Dimitrova-Mladenova, Elisaveta M Stefanova, Maria Glushkova, et al.
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