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1 |
Material Type: Artigo
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Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafishSantos-Cortez, R. L. P. ; Lee, K. ; Giese, A. P. ; Ansar, M. ; Amin-Ud-Din, M. ; Rehn, K. ; Wang, X. ; Aziz, A. ; Chiu, I. ; Hussain Ali, R. ; Smith, J. D. ; Shendure, J. ; Bamshad, M. ; Nickerson, D. A. ; Ahmed, Z. M. ; Ahmad, W. ; Riazuddin, S. ; Leal, S. M.Human molecular genetics, 2014-06, Vol.23 (12), p.3289-3298 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Genetic linkage analysis in the age of whole-genome sequencingOtt, Jurg ; Wang, Jing ; Leal, Suzanne MNature reviews. Genetics, 2015-05, Vol.16 (5), p.275-284 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Distinct roles for Dectin-1 and TLR4 in the pathogenesis of Aspergillus fumigatus keratitisLeal, Jr, Sixto M ; Cowden, Susan ; Hsia, Yen-Cheng ; Ghannoum, Mahmoud A ; Momany, Michelle ; Pearlman, Eric Levitz, Stuart M.PLoS pathogens, 2010-07, Vol.6 (7), p.e1000976-e1000976 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Engineering the embryoid body microenvironment to direct embryonic stem cell differentiationBratt-Leal, Andrés M. ; Carpenedo, Richard L. ; McDevitt, Todd C.Biotechnology progress, 2009-01, Vol.25 (1), p.43-51 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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The RodA hydrophobin on Aspergillus fumigatus spores masks dectin-1- and dectin-2-dependent responses and enhances fungal survival in vivoCarrion, Steven de Jesus ; Leal, Jr, Sixto M ; Ghannoum, Mahmoud A ; Aimanianda, Vishukumar ; Latgé, Jean-Paul ; Pearlman, EricThe Journal of immunology (1950), 2013-09, Vol.191 (5), p.2581-2588 [Periódico revisado por pares]United States: Publisher : Baltimore : Williams & Wilkins, c1950-. Latest Publisher : Bethesda, MD : American Association of ImmunologistsTexto completo disponível |
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Material Type: Artigo
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Excess of rare, inherited truncating mutations in autismKrumm, Niklas ; Turner, Tychele N ; Baker, Carl ; Vives, Laura ; Mohajeri, Kiana ; Witherspoon, Kali ; Raja, Archana ; Coe, Bradley P ; Stessman, Holly A ; He, Zong-Xiao ; Leal, Suzanne M ; Bernier, Raphael ; Eichler, Evan ENature genetics, 2015-06, Vol.47 (6), p.582-588 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Incorporation of biomaterials in multicellular aggregates modulates pluripotent stem cell differentiationBratt-Leal, Andrés M ; Carpenedo, Richard L ; Ungrin, Mark D ; Zandstra, Peter W ; McDevitt, Todd CBiomaterials, 2011-01, Vol.32 (1), p.48-56 [Periódico revisado por pares]Netherlands: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Missing heritability and strategies for finding the underlying causes of complex diseaseEichler, Evan E ; Flint, Jonathan ; Gibson, Greg ; Kong, Augustine ; Leal, Suzanne M ; Moore, Jason H ; Nadeau, Joseph HNature reviews. Genetics, 2010-06, Vol.11 (6), p.446-450 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variantsFu, Wenqing ; O'Connor, Timothy D ; Jun, Goo ; Kang, Hyun Min ; Abecasis, Goncalo ; Leal, Suzanne M ; Gabriel, Stacey ; Rieder, Mark J ; Altshuler, David ; Shendure, Jay ; Nickerson, Deborah A ; Bamshad, Michael J ; Akey, Joshua MNature (London), 2013-01, Vol.493 (7431), p.216-220 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array DataWang, Gao T. ; Peng, Bo ; Leal, Suzanne M.American journal of human genetics, 2014-05, Vol.94 (5), p.770-783 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |