Ekaterina Tolmacheva
5PUBLICATIONS
16CO-AUTHORS
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Publications (5)
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|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 <i>UNC45A</i> 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
|Nov 29, 2018
Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.Alexandra Filatova, Valeria Freire, Ekaterina Lozier
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Frequent Collaborators
2 joint publications
Jekaterina Shubina
1 joint publications
G E Rudenskaya
1 joint publications
I G Sermyagina
1 joint publications
A L Chukhrova
1 joint publications
E L Dadali
1 joint publications
O A Shchagina
1 joint publications
Alexandra Filatova
1 joint publications
Taisiya O Kochetkova
1 joint publications
Grigory S Vasiliev
1 joint publications
Denis V Rebrikov
