Ekaterina Ivanovna Surkova - Genotek Ltd

Pirogov Russian National Research Medical University, Okuneva Elena Grigorievna, Genotek Ltd., Fedonyuk Inessa Dmitrievna, Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University, Il’ina Elena Stepanovna,Krasnenko Anna Yurievna, Stetsenko Ivan Fedorovich,Plotnikov Nikolay Alekseevich,Klimchuk Olesia Igorevna,Surkova Ekaterina Ivanovna, Vavilov Institute of General Genetics

BMC medical genetics（2020）

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

Anastasiya A. Kozina,Elena G. Okuneva,Natalia Baryshnikova,Olga B. Kondakova,Ekaterina A. Nikolaeva,Inessa D. Fedoniuk,Svetlana Mikhailova,Anna Y. Krasnenko,Ivan F. Stetsenko,Nikolay A. Plotnikov,Olesia Klimchuk,Yaroslav Popov,Ekaterina Surkova,Peter A. Shatalov,Alexander S. Rakitko,Valery V. Ilinsky

MOLECULAR GENETICS & GENOMIC MEDICINE（2020）

Cited7Views0WOSBibtex

A Novel Elastin Gene Frameshift Mutation in a Russian Family with Cutis Laxa: a Case Report

E. G. Okuneva,A. A. Kozina,N. V. Baryshnikova,A. Yu Krasnenko,K. Yu Tsukanov, O. I. Klimchuk,E. I. Surkova,V. V. Ilinsky

BMC dermatologyno. 1 (2019)

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Compound Heterozygous POMGNT1 Mutations Leading to Muscular Dystrophy-Dystroglycanopathy Type A3: a Case Report

Kondakova Olga Borisovna,Krasnenko Anna Yurievna,Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna,Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna,Surkova Ekaterina Ivanovna,Shatalov Peter Alekseevich,Ilinsky Valery Vladimirovich

BMC pediatrics（2019）

Cited8Views0WOSBibtex

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,Natalia V. Baryshnikova, Varvara A. Obuhova,Anna Yu. Krasnenko,Kirill Yu. Tsukanov,Olesya I. Klimchuk,Ekaterina I. Surkova,Peter A. Shatalov,Valery V. Ilinsky

BMC Nephrol（2019）

Cited10Views0WOSBibtex

Ultra-Low Coverage Sequencing As the Most Accurate Library Quantification Method Prior to Target Sequencing

A. Yu. Krasnenko,I. F. Stetsenko, O. I. Klimchuk,V. V. Demkin,A. S. Rakitko,E. I. Surkova,O. S. Druzhilovskaya

Molecular genetics, microbiology and virology（2019）

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