Works matching AU Kozina, Anastasiya A.

Results: 7

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01119-6

By:

Kozina, Anastasiya Aleksandrovna;
Okuneva, Elena Grigorievna;
Baryshnikova, Natalia Vladimirovna;
Fedonyuk, Inessa Dmitrievna;
Kholin, Alexey Aleksandrovich;
Il'ina, Elena Stepanovna;
Krasnenko, Anna Yurievna;
Stetsenko, Ivan Fedorovich;
Plotnikov, Nikolay Alekseevich;
Klimchuk, Olesia Igorevna;
Surkova, Ekaterina Ivanovna;
Ilinsky, Valery Vladimirovich

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

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Published in:

Journal of International Medical Research, 2023, v. 51, n. 10, p. 1, doi. 10.1177/03000605231206294

By:

Kozina, Anastasiya Aleksandrovna;
Kanaeva, Guria Kurbanovna;
Baryshnikova, Natalia Vladimirovna;
Ilinskaya, Anna Yurievna;
Kim, Anna Alexandrovna;
Erofeeva, Anastasia Vladimirovna;
Pogodina, Nadezhda Andreevna;
Gadzhiyeva, Jamilya Payzutdinova;
Surkova, Ekaterina Ivanovna;
Ilinsky, Valery Vladimirovich

Publication type:

Article

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report.

Published in:

Journal of International Medical Research, 2022, v. 50, n. 12, p. 1, doi. 10.1177/03000605221139718

By:

Kozina, Anastasiya Aleksandrovna;
Baryshnikova, Natalia Vladimirovna;
Ilinskaya, Anna Yurievna;
Kim, Anna Alexandrovna;
Plotnikov, Nikolay Alekseevich;
Pogodina, Nadezhda Andreevna;
Surkova, Ekaterina Ivanovna;
Shatalov, Peter Alekseevich;
Ilinsky, Valery Vladimirovich

Publication type:

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

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0669-7

By:

Kozina, Anastasiya Aleksandrovna;
Okuneva, Elena Grigorievna;
Baryshnikova, Natalia Vladimirovna;
Krasnenko, Anna Yurievna;
Tsukanov, Kirill Yurievich;
Klimchuk, Olesya Igorevna;
Kondakova, Olga Borisovna;
Larionova, Anna Nikolaevna;
Batysheva, Tatyana Timofeevna;
Surkova, Ekaterina Ivanovna;
Shatalov, Peter Alekseevich;
Ilinsky, Valery Vladimirovich

Publication type:

Article

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