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T. V. Kozhanova

2 papers indexed here

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Open access Oct 2026

STXBP1-associated developmental and epileptic encephalopathy type 4

The increased frequency of testing has led to STXBP1 variants being identified as one of the variants associated with neurological disorders. We describe genotype-phenotype correlations of three patients with STXBP1-associated developmental and epileptic encephalopathy that we observed. Our observations confirmed that...

T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova et al. · 0 citations
Open access Aug 2026

Genetic screening algorithm for children with medulloblastoma: a scoring system for stratifying the risk of hereditary variants

Introduction . Medulloblastoma is the most common malignant central nervous system tumor in children, representing a molecularly heterogeneous group of neoplasms (SHH, WNT, Group 3, Group 4 subtypes). Germline mutations in predisposition genes (PTCH1, SUFU, TP53, APC, BRCA2, PALB2, ELP1, GPR161) are identified in 5–...

T. I. Meshcheryakova, O. Zheludkova, T. V. Kozhanova et al. · 1 citation

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