Works matching AU Okuneva, Elena G.

Results: 3

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1228
By:
- Kozina, Anastasiya A.;
- Okuneva, Elena G.;
- Baryshnikova, Natalia V.;
- Kondakova, Olga B.;
- Nikolaeva, Ekaterina A.;
- Fedoniuk, Inessa D.;
- Mikhailova, Svetlana V.;
- Krasnenko, Anna Y.;
- Stetsenko, Ivan F.;
- Plotnikov, Nikolay A.;
- Klimchuk, Olesia I.;
- Popov, Yaroslav V.;
- Surkova, Ekaterina I.;
- Shatalov, Peter A.;
- Rakitko, Alexander S.;
- Ilinsky, Valery V.
Publication type:
Article
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Published in:
2019
By:
- Kozina, Anastasiya A.;
- Trofimova, Tatiana A.;
- Okuneva, Elena G.;
- Baryshnikova, Natalia V.;
- Obuhova, Varvara A.;
- Krasnenko, Anna Yu.;
- Tsukanov, Kirill Yu.;
- Klimchuk, Olesya I.;
- Surkova, Ekaterina I.;
- Shatalov, Peter A.;
- Ilinsky, Valery V.
Publication type:
journal article
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.
Published in:
Clinical Case Reports, 2018, v. 6, n. 9, p. 1871, doi. 10.1002/ccr3.1678
By:
- Anastasiya, Kozina A.;
- Elena, Okuneva G.;
- Natalia, Baryshnikova V.;
- Anna, Krasnenko Yu.;
- Kirill, Tsukanov Yu.;
- Olesya, Klimchuk I.;
- Tatiana, Nikishina A.;
- Inessa, Fedoniuk D.;
- Ekaterina, Surkova I.;
- Peter, Shatalov A.;
- Valery, Ilinsky V.
Publication type:
Article

Works matching AU Okuneva, Elena G.

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.