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Material Type: Artigo
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inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cellsGasparre, Giuseppe ; Iommarini, Luisa ; Porcelli, Anna Maria ; Lang, Martin ; Ferri, Gian Gaetano ; Kurelac, Ivana ; Zuntini, Roberta ; Mariani, Elisa ; Pennisi, Lucia Fiammetta ; Pasquini, Ernesto ; Pasquinelli, Gianandrea ; Ghelli, Anna ; Bonora, Elena ; Ceccarelli, Claudio ; Rugolo, Michela ; Salfi, Nunzio ; Romeo, Giovanni ; Carelli, ValerioHuman mutation, 2009-03, Vol.30 (3), p.391-396 [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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Fra(2) (q13) and inv(9) (pllq12) in autism: Causal relationship?Jayakar, Parul ; Chudley, Albert E. ; Ray, Mano ; Evans, Jane A. ; Perlov, Jack ; Wand, Rox ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1986-01, Vol.23 (1-2), p.381-392 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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A century of bias in genetics and evolutionHurst, Laurence DHeredity, 2019-07, Vol.123 (1), p.33-43 [Periódico revisado por pares]England: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Robust Rare Variant Association Testing for Quantitative Traits in Samples With Related IndividualsJiang, Duo ; McPeek, Mary SaraGenetic epidemiology, 2014-01, Vol.38 (1), p.10-20 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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The evaluation of cascade testing for familial hypercholesterolemiaMorris, Joan K. ; Wald, David S. ; Wald, Nicholas J.American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.78-84 [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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Natural selection maximizes Fisher informationFRANK, S.AJournal of evolutionary biology, 2009-02, Vol.22 (2), p.231-244 [Periódico revisado por pares]Oxford, UK: Oxford, UK : Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossOza, Andrea M. ; DiStefano, Marina T. ; Hemphill, Sarah E. ; Cushman, Brandon J. ; Grant, Andrew R. ; Siegert, Rebecca K. ; Shen, Jun ; Chapin, Alex ; Boczek, Nicole J. ; Schimmenti, Lisa A. ; Murry, Jaclyn B. ; Hasadsri, Linda ; Nara, Kiyomitsu ; Kenna, Margaret ; Booth, Kevin T. ; Azaiez, Hela ; Griffith, Andrew ; Avraham, Karen B. ; Kremer, Hannie ; Rehm, Heidi L. ; Amr, Sami S. ; Abou Tayoun, Ahmad N.Human mutation, 2018-11, Vol.39 (11), p.1593-1613 [Periódico revisado por pares]United States: Wiley Periodicals IncTexto completo disponível |
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Material Type: Artigo
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Constraints on the evolution of phenotypic plasticity: limits and costs of phenotype and plasticityMurren, C J ; Auld, J R ; Callahan, H ; Ghalambor, C K ; Handelsman, C A ; Heskel, M A ; Kingsolver, J G ; Maclean, H J ; Masel, J ; Maughan, H ; Pfennig, D W ; Relyea, R A ; Seiter, S ; Snell-Rood, E ; Steiner, U K ; Schlichting, C DHeredity, 2015-10, Vol.115 (4), p.293-301 [Periódico revisado por pares]England: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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The 2017 international classification of the Ehlers–Danlos syndromesMalfait, Fransiska ; Francomano, Clair ; Byers, Peter ; Belmont, John ; Berglund, Britta ; Black, James ; Bloom, Lara ; Bowen, Jessica M. ; Brady, Angela F. ; Burrows, Nigel P. ; Castori, Marco ; Cohen, Helen ; Colombi, Marina ; Demirdas, Serwet ; De Backer, Julie ; De Paepe, Anne ; Fournel‐Gigleux, Sylvie ; Frank, Michael ; Ghali, Neeti ; Giunta, Cecilia ; Grahame, Rodney ; Hakim, Alan ; Jeunemaitre, Xavier ; Johnson, Diana ; Juul‐Kristensen, Birgit ; Kapferer‐Seebacher, Ines ; Kazkaz, Hanadi ; Kosho, Tomoki ; Lavallee, Mark E. ; Levy, Howard ; Mendoza‐Londono, Roberto ; Pepin, Melanie ; Pope, F. Michael ; Reinstein, Eyal ; Robert, Leema ; Rohrbach, Marianne ; Sanders, Lynn ; Sobey, Glenda J. ; Van Damme, Tim ; Vandersteen, Anthony ; van Mourik, Caroline ; Voermans, Nicol ; Wheeldon, Nigel ; Zschocke, Johannes ; Tinkle, BradAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.8-26United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Variant interpretation using population databases: Lessons from gnomADGudmundsson, Sanna ; Singer‐Berk, Moriel ; Watts, Nicholas A. ; Phu, William ; Goodrich, Julia K. ; Solomonson, Matthew ; Rehm, Heidi L. ; MacArthur, Daniel G. ; O'Donnell‐Luria, AnneHuman mutation, 2022-08, Vol.43 (8), p.1012-1030 [Periódico revisado por pares]United States: Wiley Periodicals IncTexto completo disponível |