Ekaterina Tolmacheva

5PUBLICATIONS
16CO-AUTHORS
Genetics not elsewhere classifiedInfant and child healthNeonatologyNeurogenetics
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Publications (5)

|Mar 21, 2024
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.

Dmitry Maslennikov, Ekaterina Tolmacheva, Jekaterina Shubina

|Feb 20, 2024
Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Anna Degtyareva, Alina Dokshukina, Elena Filippova

|Jun 28, 2023
CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report.

Ekaterina R Tolmacheva, Jekaterina Shubina, Taisiya O Kochetkova

|Jan 18, 2022
[Diversity of CACNA1A-related disorders].

G E Rudenskaya, I G Sermyagina, A L Chukhrova

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