Detalhe da pesquisa
1.
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.
Balkan J Med Genet
; 26(2): 65-68, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38482258
2.
Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.
Balkan J Med Genet
; 25(1): 19-24, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36880037
3.
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Genet Couns
; 27(4): 495-501, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-30226969
4.
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
Genet Couns
; 25(3): 271-6, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25365849
5.
Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.
Genet Couns
; 23(4): 505-11, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23431752
6.
Mitochondrial DNA mutations in two bulgarian children with autistic spectrum disorders.
Balkan J Med Genet
; 15(2): 47-54, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24052731