Noncontiguous finished genome sequence of Megasphaera sp. ASD88, isolated from faeces of a child with autism spectrum disorder

por Chaplin, A.V., Polyakova, S.I., Kochetkova, T.O., Sokolova, S.R., Goltsov, A.Y., Trofimov, D.Y., Efimov, B.A.
Publicado 2018

Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review

por Shubina, Jekaterina, Barkov, Ilya Y., Stupko, Olga K., Kuznetsova, Maria V., Goltsov, Andrey Y., Kochetkova, Taisya O., Trofimov, Dmitry Y., Sukhikh, Gennady T.
Publicado 2020

Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel

por Kuznetsova, Maria V., Trofimov, Dmitry Yu., Shubina, Ekaterina S., Kochetkova, Taisiya O., Karetnikova, Natalia A., Barkov, Ilya Yu., Bakharev, Vladimir A., Gusev, Oleg A., Sukhikh, Gennady T.
Publicado 2017

Correction to: Does the uterine microbiota affect the reproductive outcomes in women with recurrent implantation failures?

por Keburiya, Lela K., Smolnikova, Veronika Yu., Priputnevich, Tatiana V., Muravieva, Vera V., Gordeev, Alexey B., Trofimov, Dmitry Yu., Shubina, Ekaterina S., Kochetkova, Taisiya O., Rogacheva, Margarita S., Kalinina, Elena A., Sukhikh, Gennady T.
Publicado 2023

Does the uterine microbiota affect the reproductive outcomes in women with recurrent implantation failures?

por Keburiya, Lela K., Smolnikova, Veronika Yu., Priputnevich, Tatiana V., Muravieva, Vera V., Gordeev, Alexey B., Trofimov, Dmitry Yu., Shubina, Ekaterina S., Kochetkova, Taisiya O., Rogacheva, Margarita S., Kalinina, Elena A., Sukhikh, Gennady T.
Publicado 2022

CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report

por Tolmacheva, Ekaterina R., Shubina, Jekaterina, Kochetkova, Taisiya O., Ushakova, Lubov’ V., Bokerija, Ekaterina L., Vasiliev, Grigory S., Mikhaylovskaya, Galina V., Atapina, Ekaterina E., Zaretskaya, Nadezhda V., Sukhikh, Gennady T., Rebrikov, Denis V., Trofimov, Dmitriy Yu.
Publicado 2023

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures

por Kochetkova, Taisiya O., Maslennikov, Dmitry N., Tolmacheva, Ekaterina R., Shubina, Jekaterina, Bolshakova, Anna S., Suvorova, Dzhenneta I., Degtyareva, Anna V., Orlovskaya, Irina V., Kuznetsova, Maria V., Rachkova, Anastasia A., Sukhikh, Gennady T., Rebrikov, Denis V., Trofimov, Dmitriy Yu.
Publicado 2023