Ekaterina R Tolmacheva (Ekaterina Tolmacheva, E R Lozier, Ekaterina Lozier)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 10

Top Venues

Genes

Clinical genetics

Current pediatric reviews

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

This page only lists publications with an associated author ORCID identifier.

Publications

Dmitry Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Grigory Vasiliev, Margarita Rogacheva, Ksenia Svirepova, Dmitry Trofimov
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome. Clinical genetics (2024)
Anna V Degtyareva, Alina Dokshukina, Elena Filippova, Jekaterina Shubina, Ekaterina R Tolmacheva, Igor Sadelov, Marina Albegova, Dmitriy Degtyarev
Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus. Current pediatric reviews (2024)
Dmitry Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Grigory Vasiliev, Margarita Rogacheva, Ksenia Svirepova, Dmitry Trofimov
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome. Clinical genetics 105 (6) (2024)
Dmitry Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Grigory Vasiliev, Margarita Rogacheva, Ksenia Svirepova, Dmitry Trofimov
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome. Clinical genetics 105 (6) (2024)
Ekaterina R Tolmacheva, Jekaterina Shubina, Taisiya O Kochetkova, Lubov' V Ushakova, Ekaterina L Bokerija, Grigory S Vasiliev, Galina V Mikhaylovskaya, Ekaterina E Atapina, Nadezhda V Zaretskaya, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report. Genes 14 (6) (2023)
Ekaterina R Tolmacheva, Jekaterina Shubina, Taisiya O Kochetkova, Lubov' V Ushakova, Ekaterina L Bokerija, Grigory S Vasiliev, Galina V Mikhaylovskaya, Ekaterina E Atapina, Nadezhda V Zaretskaya, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report. Genes 14 (6) (2023)
Ekaterina R Tolmacheva, Jekaterina Shubina, Taisiya O Kochetkova, Lubov' V Ushakova, Ekaterina L Bokerija, Grigory S Vasiliev, Galina V Mikhaylovskaya, Ekaterina E Atapina, Nadezhda V Zaretskaya, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report. Genes 14 (6) (2023)
Ekaterina R Tolmacheva, Jekaterina Shubina, Taisiya O Kochetkova, Lubov' V Ushakova, Ekaterina L Bokerija, Grigory S Vasiliev, Galina V Mikhaylovskaya, Ekaterina E Atapina, Nadezhda V Zaretskaya, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report. Genes 14 (6) (2023)
G E Rudenskaya, I G Sermyagina, Alena Chukhrova, E L Dadali, Ekaterina R Tolmacheva, Olga A Shchagina
[Diversity of CACNA1A-related disorders]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 121 (12) (2022)
Alexandra Yu Filatova, Valeria Freire, Ekaterina R Tolmacheva, Fedor Konovalov, Ludmila Bessonova, Elena Iudina, Valentina Gnetetskaya, Ilya Kanivets, Sergey Korostelev, Mikhail Skoblov
Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome. Clinical genetics 95 (3) (2018)

Ekaterina R Tolmacheva.css-eqlu8i{font-size:small;padding-left:4px;} (Ekaterina Tolmacheva, E R Lozier, Ekaterina Lozier)

Publication Activity (10 Years)

Top Topics

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Ekaterina R Tolmacheva (Ekaterina Tolmacheva, E R Lozier, Ekaterina Lozier)