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1 |
Material Type: Livro
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Frühe Keramik und Kleinfunde aus El-Târif I, Vordynastische und Archaische Funde II, Keramik aus den Mastabas des Alten ReichesHelke Kammerer-Grothaus Josef Riederer (1939-....) Auteur; Boleslaw Ginter Éditeur scientifique; Evamaria Engel (1934-....). Éditeur scientifique; Arne Eggebrecht (1935-2004) Éditeur scientifiqueMainz P. von Zabern 1998Localização: MAE - Museu Arqueologia e Etnologia (CC79.5.P8 K15f )(Acessar) |
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2 |
Material Type: Artigo
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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutationsVasilyeva, T.A. ; Voskresenskaya, A.A. ; Käsmann‐Kellner, B. ; Khlebnikova, O.V. ; Pozdeyeva, N.A. ; Bayazutdinova, G.M. ; Kutsev, S.I. ; Ginter, E.K. ; Semina, E.V. ; Marakhonov, A.V. ; Zinchenko, R.A.Clinical genetics, 2017-12, Vol.92 (6), p.639-644 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North CaucasusPetrova, N V ; Kashirskaya, N Y ; Saydaeva, D K ; Polyakov, A V ; Adyan, T A ; Simonova, O I ; Gorinova, Y V ; Kondratyeva, E I ; Sherman, V D ; Novoselova, O G ; Vasilyeva, T A ; Marakhonov, A V ; Macek, Jr, M ; Ginter, E K ; Zinchenko, R ABMC medical genetics, 2019-03, Vol.20 (1), p.44-44, Article 44 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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4 |
Material Type: Artigo
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Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programsZinchenko, R A ; Kutsev, S I ; Aleksandrova, O Yu ; Ginter, E KProblemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny, 2019-09, Vol.27 (5), p.865 [Periódico revisado por pares]Russia (Federation)Sem texto completo |
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5 |
Material Type: Artigo
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Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophiesAndreeva, T V ; Tyazhelova, T V ; Rykalina, V N ; Gusev, F E ; Goltsov, A Yu ; Zolotareva, O I ; Aliseichik, M P ; Borodina, T A ; Grigorenko, A P ; Reshetov, D A ; Ginter, E K ; Amelina, S S ; Zinchenko, R A ; Rogaev, E IScientific reports, 2016-05, Vol.6 (1), p.26440-26440, Article 26440 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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6 |
Material Type: Artigo
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High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-CherkessiaPetrova, N.V ; Kashirskaya, N.Yu ; Vasilyeva, T.A ; Timkovskaya, E.E ; Voronkova, A.Yu ; Shabalova, L.A ; Kondratyeva, E.I ; Sherman, V.D ; Novoselova, O.G ; Kapranov, N.I ; Zinchenko, R.A ; Ginter, E.K ; Makaov, A.Kh-M ; Kerem, BJournal of cystic fibrosis, 2016-05, Vol.15 (3), p.e28-e32 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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7 |
Material Type: Artigo
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Laminopathies in Russian familiesRudenskaya, GE ; Polyakov, AV ; Tverskaya, SM ; Zaklyazminskaya, EV ; Chukhrova, AL ; Groznova, OE ; Ginter, EKClinical genetics, 2008-08, Vol.74 (2), p.127-133 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Characteristics of the mutation spectrum identified by comprehensive investigation of the CFTR gene in the Russian patientsPetrova, N. V. ; Marakhonov, A. Yu ; Vasilyeva, T. A. ; Kashirskaya, N. Yu ; Kondratyeva, E. I. ; Zhekayte, E. K. ; Voronkova, A. Yu ; Sherman, V. D. ; Galkina, V. A. ; Ginter, E. K. ; Kutsev, S. I. ; Zinchenko, R. A.Alʹmanakh klinicheskoĭ medit͡s︡iny, 2019-02, Vol.47 (1), p.38-46 [Periódico revisado por pares]MONIKITexto completo disponível |
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9 |
Material Type: Artigo
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Expression Profiles of Genes—Potential Therapy Targets—and Their Relationship to Survival in Renal Cell CarcinomaApanovich, N. V. ; Peters, M. V. ; Apanovich, P. V. ; Kamolov, B. Sh ; Matveev, V. B. ; Ginter, E. K. ; Karpukhin, A. V.Doklady. Biochemistry and biophysics, 2018, Vol.478 (1), p.14-17 [Periódico revisado por pares]Moscow: Pleiades PublishingTexto completo disponível |
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10 |
Material Type: Artigo
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Inherited Thrombophilia: Part 1Lane, David A ; Mannucci, Pier M ; Bauer, Kenneth A ; Bertina, Rogier M ; Bochkov, Nikolay P ; Boulyjnkov, Victor ; Chandy, Mammen ; Dahlback, Bjorn ; Ginter, E K ; Miletich, Joseph P ; Rosendaal, Frits R ; Seligsohn, UriThrombosis and haemostasis, 1996, Vol.76 (5), p.651-662 [Periódico revisado por pares]Stuttgart: Schattauer GmbHTexto completo disponível |