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Material Type: Artigo
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromesRagge, Nicola ; Isidor, Bertrand ; Bitoun, Pierre ; Odent, Sylvie ; Giurgea, Irina ; Cogné, Benjamin ; Deb, Wallid ; Vincent, Marie ; Le Gall, Jessica ; Morton, Jenny ; Lim, Derek ; Le Meur, Guylène ; Zazo Seco, Celia ; Zafeiropoulou, Dimitra ; Bax, Dorine ; Zwijnenburg, Petra ; Arteche, Anara ; Swafiri, Saoud Tahsin ; Cleaver, Ruth ; McEntagart, Meriel ; Kini, Usha ; Newman, William ; Ayuso, Carmen ; Corton, Marta ; Herenger, Yvan ; Jeanne, Médéric ; Calvas, Patrick ; Chassaing, NicolasHuman genetics, 2019-09, Vol.138 (8-9), p.1051-1069 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesCeroni, Fabiola ; Aguilera-Garcia, Domingo ; Chassaing, Nicolas ; Bax, Dorine Arjanne ; Blanco-Kelly, Fiona ; Ramos, Patricia ; Tarilonte, Maria ; Villaverde, Cristina ; da Silva, Luciana Rodrigues Jacy ; Ballesta-Martínez, Maria Juliana ; Sanchez-Soler, Maria Jose ; Holt, Richard James ; Cooper-Charles, Lisa ; Bruty, Jonathan ; Wallis, Yvonne ; McMullan, Dominic ; Hoffman, Jonathan ; Bunyan, David ; Stewart, Alison ; Stewart, Helen ; Lachlan, Katherine ; Fryer, Alan ; McKay, Victoria ; Roume, Joëlle ; Dureau, Pascal ; Saggar, Anand ; Griffiths, Michael ; Calvas, Patrick ; Ayuso, Carmen ; Corton, Marta ; Ragge, Nicola KHuman genetics, 2019-09, Vol.138 (8-9), p.1027-1042 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Fibrinogen as a key regulator of inflammation in diseaseDavalos, Dimitrios ; Akassoglou, KaterinaSeminars in immunopathology, 2012, Vol.34 (1), p.43-62 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Identification and development of a functional marker of TaGW2 associated with grain weight in bread wheat (Triticum aestivum L.)Su, Zhenqi ; Hao, Chenyang ; Wang, Lanfen ; Dong, Yuchen ; Zhang, XueyongTheoretical and applied genetics, 2011-01, Vol.122 (1), p.211-223 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Genetics of familial forms of thrombocytopeniaBalduini, Carlo L. ; Savoia, AnnaHuman genetics, 2012-12, Vol.131 (12), p.1821-1832 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Association mapping and gene–gene interaction for stem rust resistance in CIMMYT spring wheat germplasmYu, Long-Xi ; Lorenz, Aaron ; Rutkoski, Jessica ; Singh, Ravi P. ; Bhavani, Sridhar ; Huerta-Espino, Julio ; Sorrells, Mark E.Theoretical and applied genetics, 2011-12, Vol.123 (8), p.1257-1268 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Genetic associations in diabetic nephropathy: a meta-analysisMooyaart, A. L ; Valk, E. J. J ; van Es, L. A ; Bruijn, J. A ; de Heer, E ; Freedman, B. I ; Dekkers, O. M ; Baelde, H. JDiabetologia, 2011-03, Vol.54 (3), p.544-553 [Periódico revisado por pares]Berlin/Heidelberg: Berlin/Heidelberg : Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and managementMaher, Eamonn R.World journal of urology, 2018-12, Vol.36 (12), p.1891-1898 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Genetics of the congenital absence of the vas deferensBieth, Eric ; Hamdi, Safouane M. ; Mieusset, RogerHuman genetics, 2021-01, Vol.140 (1), p.59-76 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Candidate gene studies of ADHD: a meta-analytic reviewGizer, Ian R. ; Ficks, Courtney ; Waldman, Irwin D.Human genetics, 2009-07, Vol.126 (1), p.51-90 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |