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1 |
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Recombinant chromosome 7 in a mosaic 45,X/47,XXX patientTirado, Carlos A. ; Gotway, Garrett ; Torgbe, Emmanuel ; Iyer, Santha ; Dallaire, Stephanie ; Appleberry, Taylor ; Suterwala, Mohamed ; Garcia, Rolando ; Valdez, Federico ; Patel, Sangeeta ; Koduru, PrasadAmerican journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.206-214 [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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Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypesPatwardhan, Anil J. ; Brown, Wendy E. ; Bender, Bruce G. ; Linden, Mary G. ; Eliez, Stephan ; Reiss, Allan L.American journal of medical genetics, 2002-01, Vol.114 (1), p.93-98 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Rett syndrome in a 47,XXX patient with a de novo MECP2 mutationHammer, Sara ; Dorrani, Naghmeh ; Hartiala, Jaana ; Stein, Stuart ; Schanen, N. CarolynAmerican journal of medical genetics, 2003-10, Vol.122A (3), p.223-226 [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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Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesisBishop, Dorothy VM ; Scerif, GaiaActa Paediatrica, 2011-06, Vol.100 (6), p.903-907 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalitiesLinden, Mary G. ; Bender, Bruce G.American journal of medical genetics, 2002-06, Vol.110 (1), p.11-18New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Autism, language and communication in children with sex chromosome trisomiesBishop, Dorothy V M ; Jacobs, Patricia A ; Lachlan, Katherine ; Wellesley, Diana ; Barnicoat, Angela ; Boyd, Patricia A ; Fryer, Alan ; Middlemiss, Prisca ; Smithson, Sarah ; Metcalfe, Kay ; Shears, Deborah ; Leggett, Victoria ; Nation, Kate ; Scerif, GaiaArchives of disease in childhood, 2011-10, Vol.96 (10), p.954-959 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
7 |
Material Type: Artigo
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Psychosocial factors involved in delayed consultation by patients with head and neck cancerRozniatowski, Olivier ; Reich, Michel ; Mallet, Yann ; Penel, Nicolas ; Fournier, Charles ; Lefebvre, Jean-LouisHead & neck, 2005-04, Vol.27 (4), p.274-280 [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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Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the NetherlandsHochstenbach, Ron ; van Binsbergen, Ellen ; Engelen, John ; Nieuwint, Aggie ; Polstra, Abeltje ; Poddighe, Pino ; Ruivenkamp, Claudia ; Sikkema-Raddatz, Birgit ; Smeets, Dominique ; Poot, MartinEuropean journal of medical genetics, 2009-07, Vol.52 (4), p.161-169 [Periódico revisado por pares]Amsterdam: Elsevier Masson SASTexto completo disponível |
9 |
Material Type: Artigo
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Psychosocial effects in long-term head and neck cancer survivorsHolloway, Richard L. ; Hellewell, James L. ; Marbella, Anne M. ; Layde, Peter M. ; Myers, Katherine B. ; Campbell, Bruce H.Head & neck, 2005-04, Vol.27 (4), p.281-288 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
10 |
Material Type: Artigo
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Second primary malignancy of the aerodigestive tract in patients treated for cancer of the oral cavity and larynxLin, Karen ; Patel, Snehal G. ; Chu, Pen Yuan ; Matsuo, Jeannette M. S. ; Singh, Bhuvanesh ; Wong, Richard J. ; Kraus, Dennis H. ; Shaha, Ashok R. ; Shah, Jatin P. ; Boyle, Jay O.Head & neck, 2005-12, Vol.27 (12), p.1042-1048 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |