Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Vídeo
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Measurement of Metabolic Rate in Drosophila using RespirometryAndriy S. YatsenkoMyJoVE Corp.Acesso online |
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2 |
Material Type: Artigo de Congresso
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Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndromeJuliana Forte Mazzeu Feng Zhang; C M Carvalho; Ana Cristina Victorino Krepischi; S Yatsenko; Eliete Pardono; Paulo Alberto Otto; Carla Rosenberg; J Lupsski; Angela Maria Vianna-Morgante; Annual Meeting of the American Society of Human Genetics (60. 2010 Washington)Poster Abstracts Washington, 2010Washingtom, DC 2010Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian FailureKatari, S ; Wood-Trageser, M. A ; Jiang, H ; Kalynchuk, E ; Muzumdar, R ; Yatsenko, S. A ; Rajkovic, AThe journal of clinical endocrinology and metabolism, 2015-06, Vol.100 (6), p.2154-2157 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
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4 |
Material Type: Artigo
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High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacyYatsenko, S.A. ; Bakos, H.A. ; Vitullo, K. ; Kedrov, M. ; Kishore, A. ; Jennings, B.J. ; Surti, U. ; Wood-Trageser, M.A. ; Cercone, S. ; Yatsenko, A.N. ; Rajkovic, A. ; Iannaccone, A.Clinical genetics, 2016-01, Vol.89 (1), p.82-87 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaLeipoldt, M ; Erdel, M ; Bien-Willner, GA ; Smyk, M ; Theurl, M ; Yatsenko, SA ; Lupski, JR ; Lane, AH ; Shanske, AL ; Stankiewicz, P ; Scherer, GClinical genetics, 2007-01, Vol.71 (1), p.67-75 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Identification of critical regions for clinical features of distal 10q deletion syndromeYatsenko, SA ; Kruer, MC ; Bader, PI ; Corzo, D ; Schuette, J ; Keegan, CE ; Nowakowska, B ; Peacock, S ; Cai, WW ; Peiffer, DA ; Gunderson, KL ; Ou, Z ; Chinault, AC ; Cheung, SWClinical genetics, 2009-07, Vol.76 (1), p.54-62 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Application of chromosomal microarray in the evaluation of abnormal prenatal findingsYatsenko, SA ; Davis, S ; Hendrix, NW ; Surti, U ; Emery, S ; Canavan, T ; Speer, P ; Hill, L ; Clemens, M ; Rajkovic, AClinical genetics, 2013-07, Vol.84 (1), p.47-54 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephalyYatsenko, S A ; Cheung, S W ; Scott, D A ; Nowaczyk, M J M ; Tarnopolsky, M ; Naidu, S ; Bibat, G ; Patel, A ; Leroy, J G ; Scaglia, F ; Stankiewicz, P ; Lupski, J RJournal of medical genetics, 2005-04, Vol.42 (4), p.328-335 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndromeYatsenko, SA ; Yatsenko, AN ; Szigeti, K ; Craigen, WJ ; Stankiewicz, P ; Cheung, SW ; Lupski, JRClinical genetics, 2004-08, Vol.66 (2), p.128-136 [Periódico revisado por pares]Oxford, UK; Malden, USA: Munksgaard International PublishersTexto completo disponível |
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10 |
Material Type: Artigo
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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiencyBestetti, I ; Barbieri, C ; Sironi, A ; Specchia, V ; Yatsenko, S A ; De Donno, M D ; Caslini, C ; Gentilini, D ; Crippa, M ; Larizza, L ; Marozzi, A ; Rajkovic, A ; Toniolo, D ; Bozzetti, M P ; Finelli, PHuman reproduction (Oxford), 2021-10, Vol.36 (11), p.2975-2991 [Periódico revisado por pares]Oxford University PressTexto completo disponível |