D V I

6PUBLICATIONS

6CO-AUTHORS

Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Medical parasitologyNeonatologyInfant and child health

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Publications (6)

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|Jun 26, 2026

[De novo variant in the ATP2B2 gene as a cause of neuropsychiatric developmental disorder].

|Feb 11, 2025

[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].

D V I, S A Seregin, T N Proskokova

|Sep 01, 2023

[Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene].

D V I, T N Proskokova

|Dec 20, 2022

[Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290].

D V I

|May 25, 2022

[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1].

D V I, V A Aysina

|Jan 18, 2022

[Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier].

D V I, T N Proskokova, N V Sikora

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Frequent Collaborators

T N Proskokova

N V Sikora

N Yu Abramycheva

S N Illarioshkin

V A Aysina

S A Seregin

Frequent Collaborators

T N Proskokova

N V Sikora

N Yu Abramycheva

S N Illarioshkin