Jekaterina Shubina

7PUBLICATIONS
22CO-AUTHORS
Developmental genetics (incl. sex determination)Infant and child healthNeonatologyEpigenetics (incl. genome methylation and epigenomics)Psychosocial aspects of childbirth and perinatal mental health
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Publications (7)

|Feb 11, 2025
Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rate.

Polina N Tsabai, Nadezhda S Pavlova, Taras V Shatylko

|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

|Feb 25, 2023
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.

Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva

|Feb 25, 2022
Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors.

Maria V Kuznetsova, Nelly S Sogoyan, Andrew J Donnikov

|Aug 29, 2020
Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.

Jekaterina Shubina, Ilya Y Barkov, Olga K Stupko

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