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

Autor: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10/8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Okuneva EG; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Fedonyuk ID; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Kholin AA; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Il'ina ES; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Krasnenko AY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Stetsenko IF; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Plotnikov NA; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Surkova EI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10/8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

Publikováno v: BMC medical genetics [BMC Med Genet] 2020 Oct 21; Vol. 21 (1), pp. 209. Date of Electronic Publication: 2020 Oct 21.

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

Autor: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Trofimova TA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia., Okuneva EG; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Obuhova VA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia., Krasnenko AY; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Tsukanov KY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Surkova EI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Shatalov PA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

Publikováno v: BMC nephrology [BMC Nephrol] 2019 Oct 26; Vol. 20 (1), pp. 389. Date of Electronic Publication: 2019 Oct 26.

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

Autor: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Okuneva EG; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Krasnenko AY; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Tsukanov KY; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Kondakova OB; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Larionova AN; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Batysheva TT; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Surkova EI; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Shatalov PA; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

Publikováno v: BMC medical genetics [BMC Med Genet] 2018 Aug 25; Vol. 19 (1), pp. 151. Date of Electronic Publication: 2018 Aug 25.