S. Tincheva

发表

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

I. Litvinenko, V. Mitev, S. Tincheva, 2015, Neurological Sciences.

Role of testis-specific serine kinase 1B in undiagnosed male infertility

D. Spandidos, V. Zoumpourlis, S. Tincheva, 2022, Molecular medicine reports.

Wolman Disease in Bulgarian Patients: Selective Genetic Screening in Two Presumable Endemic Regions

V. Mitev, S. Tincheva, T. Todorov, 2017 .

A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier

T. Todorov, I. Litvinenko, S. Tincheva, 2014, Clinical genetics.

MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance

B. Peterlin, A. Maver, V. Mitev, 2021, Neuromuscular Disorders.

Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions

I. Litvinenko, V. Mitev, S. Tincheva, 2016, Neuromuscular Disorders.

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

S. Tincheva, A. Todorova, R. Tincheva, 2014, Genetic counseling.

Two autosomal recessive neuromuscular disorders - FRDA and LGMD2A, in a single Bulgarian pedigree

V. Mitev, S. Tincheva, T. Todorov, 2015 .