Radka S. Tincheva
Sofia, Bulgaria
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
Journal: American journal of hematology
Published: February 09, 2021
Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.
Journal: The Journal of pediatrics
Published: May 19, 2016
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
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
Journal: Orphanet journal of rare diseases
Published: December 15, 2014
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
Newborn screening in southeastern Europe.
Journal: Molecular genetics and metabolism
Published: July 16, 2014
Mitochondrial DNA mutations in two bulgarian children with autistic spectrum disorders.
Journal: Balkan journal of medical genetics : BJMG
Published: September 21, 2013
Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.
Journal: Genetic counseling (Geneva, Switzerland)
Published: February 26, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026