Irena Bradinova
Sofia, 1612, Bulgaria
Last Updated: 09/26/2026
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Found 8 publications
Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.
Journal: Clinical genetics
Published: July 24, 2026
Expectations and the Patient-Doctor Relationship: Ethical Considerations in a Case of Triploidy.
Journal: Healthcare (Basel, Switzerland)
Published: March 06, 2025
Netherton syndrome-A therapeutic challenge in childhood.
Journal: Clinical case reports
Published: February 03, 2024
Dopa-responsive dystonia in Bulgarian patients: report of three cases.
Journal: European journal of human genetics : EJHG
Published: March 22, 2023
Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.
Journal: Clinical genetics
Published: January 24, 2022
Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children.
Journal: Journal of pediatric genetics
Published: August 07, 2020
Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects.
Journal: Journal of pediatric genetics
Published: June 24, 2020
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: November 10, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026