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Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Autor: Bulakh M; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: mariya.bulakh@gmail.com., Polyakova D; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: apol@dnalab.ru., Dadali E; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: genclinic@yandex.ru., Rudenskaya G; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: rudenskaya@med-gen.ru., Sharkova I; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: sharkova-inna@rambler.ru., Markova T; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: markova@med-gen.ru., Murtazina A; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: aysylumurtazina@gmail.com., Demina N; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: ndemina47@mail.ru., Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University N.N. Burdenko, Voronezh, Russia; Saratov State Medical University, Saratov, Russia. Electronic address: Kurbatov80@list.ru., Nikitina N; State Healthcare Institution of Sverdlovsk Region 'Clinical Diagnostic Center 'Mother's and Child Health Protection', Yekaterinburg, Russia. Electronic address: nikitinanv@list.ru., Udalova V; Genomed LLC, Moscow, Russia. Electronic address: udalova@genomed.ru., Polyakov A; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: polyakov@med-gen.ru., Ryzhkova O; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: ryzhkova@dnalab.ru.

Publikováno v: Gene [Gene] 2024 Nov 15; Vol. 927, pp. 148680. Date of Electronic Publication: 2024 Jun 12.

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Akademický článek

Application of Cold Plasma to Reduce the Roughness of the Working Surface of a Railway Car Center Plate.

Autor: Bulakh M; Faculty of Mechanics and Technology, Rzeszow University of Technology, 37-450 Stalowa Wola, Poland.

Publikováno v: Materials (Basel, Switzerland) [Materials (Basel)] 2024 Nov 07; Vol. 17 (22). Date of Electronic Publication: 2024 Nov 07.

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Akademický článek

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Akademický článek

Studies in the Verbal Morphology of Soqotri III/1: The Second Stem

Autor: Naumkin, V., Bulakh, M., Cherkashin, D., Kogan, L., Issa, A., Gumaan, I., Mohammed, M.

Publikováno v: Zeitschrift für Arabische Linguistik, 2019 Jan 01(69), 61-93.

Externí odkaz: https://www.jstor.org/stable/10.13173/zeitarabling.69.0061

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Akademický článek

Studies in the Verbal Morphology of Soqotri III/2: a List of Sound and Weak Verbs Belonging to Second Stem in Soqotri

Autor: Naumkin, V., Bulakh, M., Cherkashin, D., Kogan, L., Issa, A., Gumaan, I., Mohammed, M.

Publikováno v: Zeitschrift für Arabische Linguistik, 2019 Jan 01(70), 73-91.

Externí odkaz: https://www.jstor.org/stable/10.13173/zeitarabling.70.0073

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Akademický článek

Asymmetric scapuloperoneal phenotype of MATR3 -related distal myopathy: case series.

Autor: Murtazina A; Research Centre for Medical Genetics, Moscow, Russia., Subbotin D; Research Centre for Medical Genetics, Moscow, Russia., Kuchina A; Research Centre for Medical Genetics, Moscow, Russia., Gilvanova O; Loginov Moscow Clinical Scientific Center, Moscow, Russia., Degterev D; Loginov Moscow Clinical Scientific Center, Moscow, Russia., Shchagina O; Research Centre for Medical Genetics, Moscow, Russia., Cherevatova T; Research Centre for Medical Genetics, Moscow, Russia., Bulakh M; Research Centre for Medical Genetics, Moscow, Russia., Sherstyukova D; Research Centre for Medical Genetics, Moscow, Russia., Ryzhkova O; Research Centre for Medical Genetics, Moscow, Russia., Kurushina O; Department of Neurology, Neurosurgery, Medical Genetics, Volgograd State Medical University, Volgograd, Russia., Skoblov M; Research Centre for Medical Genetics, Moscow, Russia., Borovikov A; Research Centre for Medical Genetics, Moscow, Russia., Kutsev S; Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Aug 13; Vol. 15, pp. 1414928. Date of Electronic Publication: 2024 Aug 13 (Print Publication: 2024).

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The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Autor: Shatokhina O; The Shared Resource Centre 'Genome', Federal State Budgetary Institution 'Research Centre For Medical Genetics', Moscow, Russia., Bostanova F; The Shared Resource Centre 'Genome', Federal State Budgetary Institution 'Research Centre For Medical Genetics', Moscow, Russia., Bulakh M; The Shared Resource Centre 'Genome', Federal State Budgetary Institution 'Research Centre For Medical Genetics', Moscow, Russia., Beresneva A; The Scientific and Medical Department, LLC 'Evogen', Moscow, Russia., Ryzhkova O; The Shared Resource Centre 'Genome', Federal State Budgetary Institution 'Research Centre For Medical Genetics', Moscow, Russia.

Publikováno v: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 573-580. Date of Electronic Publication: 2024 Feb 08.

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