Jekaterina Shubina

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 13

Top Venues

Genes

Molecular genetics & genomic medicine

Biomedicines

Current pediatric reviews

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

Publications

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)
Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Anna S Bolshakova, Dzhenneta I Suvorova, Anna V Degtyareva, Irina V Orlovskaya, Maria V Kuznetsova, Anastasia A Rachkova, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes 14 (2) (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)
Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Anna S Bolshakova, Dzhenneta I Suvorova, Anna V Degtyareva, Irina V Orlovskaya, Maria V Kuznetsova, Anastasia A Rachkova, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes 14 (2) (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)
Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Anna S Bolshakova, Dzhenneta I Suvorova, Anna V Degtyareva, Irina V Orlovskaya, Maria V Kuznetsova, Anastasia A Rachkova, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes 14 (2) (2023)
Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Anna S Bolshakova, Dzhenneta I Suvorova, Anna V Degtyareva, Irina V Orlovskaya, Maria V Kuznetsova, Anastasia A Rachkova, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes 14 (2) (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)
Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Anna S Bolshakova, Dzhenneta I Suvorova, Anna V Degtyareva, Irina V Orlovskaya, Maria V Kuznetsova, Anastasia A Rachkova, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes 14 (2) (2023)
Maria V Kuznetsova, Nelly S Sogoyan, Andrew J Donnikov, Dmitry Y Trofimov, Leila V Adamyan, Natalia D Mishina, Jekaterina Shubina, Dmitry V Zelensky, Gennady T Sukhikh
Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors. Biomedicines 10 (2) (2022)
Jekaterina Shubina, Ilya Y Barkov, Olga K Stupko, Maria V Kuznetsova, Andrey Y Goltsov, Taisya O Kochetkova, Dmitry Y Trofimov, Gennady T Sukhikh
Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review. Molecular genetics & genomic medicine 8 (10) (2020)
Jekaterina Shubina, Dmitry Yu Trofimov, Ilya Yu Barkov, Olga K Stupko, Andrey Yu Goltsov, Irina S Mukosey, Nana K Tetruashvili, Lyudmila V Kim, Vladimir A Bakharev, Natalia A Karetnikova, Taisya O Kochetkova, Regina V Krasheninnikova, Andrey A Bystritskiy, Gennady T Sukhikh
In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X. Prenatal diagnosis 37 (13) (2018)

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Publication Activity (10 Years)

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Jekaterina Shubina