Daniela M. Tzavella-Avdjieva

11 Acad Ivan Geshov Blvd
Sofia, 1612, Bulgaria

Last Updated: 09/26/2026

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Found 14 publications

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Journal: Clinical genetics

Published: July 24, 2026

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 16, 2025

Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment.

Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment.

Journal: Nature communications

Published: March 25, 2025

EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.

EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.

Journal: Balkan journal of medical genetics : BJMG

Published: March 14, 2024

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Journal: European journal of human genetics : EJHG

Published: March 22, 2023

Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.

Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.

Journal: Balkan journal of medical genetics : BJMG

Published: March 07, 2023

Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.

Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.

Journal: Journal of genetics

Published: February 01, 2023

First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria.

First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 16, 2022

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

Journal: Orphanet journal of rare diseases

Published: November 15, 2021

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

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

Journal: Gene

Published: December 13, 2017

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

Journal: Genetic counseling (Geneva, Switzerland)

Published: January 01, 2016

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

Journal: Genetic counseling (Geneva, Switzerland)

Published: November 05, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026