Surkova I Ekaterina
8PUBLICATIONS
5CO-AUTHORS
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Publications (8)
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|Nov 01, 2023
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova
|Dec 26, 2022
Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya
|Oct 22, 2020
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova
|May 16, 2020
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.Anastasiya A Kozina, Elena G Okuneva, Natalia V Baryshnikova
|Oct 28, 2019
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.Anastasiya A Kozina, Tatiana A Trofimova, Elena G Okuneva
|Apr 10, 2019
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.Kondakova Olga Borisovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich
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