Veneta Bojinova

Sofia, Bulgaria

Last Updated: 09/26/2026

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Found 8 publications

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Journal: Genes
Published: July 30, 2024

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Journal: Molecular genetics & genomic medicine
Published: December 17, 2023

SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.

SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.

Journal: The Turkish journal of pediatrics
Published: October 27, 2020

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Journal: Journal of genetics
Published: June 23, 2018

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Journal: European neurology
Published: December 01, 2015

Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

Journal: Balkan journal of medical genetics : BJMG
Published: November 23, 2013

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria.

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria.

Journal: Epilepsy research
Published: July 16, 2012

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Journal: American journal of human genetics
Published: April 03, 2012
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Last Updated: 09/26/2026