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Is the prevalence of Klinefelter syndrome increasing?MORRIS, Joan K ; ALBERMAN, Eva ; SCOTT, Claire ; JACOBS, PatriciaEuropean journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromeHarbuz, Radu ; Lespinasse, James ; Boulet, Stéphanie ; Francannet, Christine ; Creveaux, Isabelle ; Benkhelifa, Mariem ; Jouk, Pierre-Simon ; Lunardi, Joël ; Ray, Pierre F.Prenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyBOYD, Patricia Anne ; LOANE, Maria ; GARNE, Ester ; KHOSHNOOD, Babak ; DOLK, HelenEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Palmitic acid in the sn-2 position of triacylglycerols acutely influences postprandial lipid metabolismSANDERS, Thomas A. B ; FILIPPOU, Androulla ; BERRY, Sarah E ; BAUMGARTNER, Sabine ; MENSINK, Ronald PThe American journal of clinical nutrition, 2011-12, Vol.94 (6), p.1433-1441 [Periódico revisado por pares]Bethesda, MD: American Society for NutritionTexto completo disponível |
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Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidyOttesen, Anne Marie ; Aksglaede, Lise ; Garn, Inger ; Tartaglia, Nicole ; Tassone, Flora ; Gravholt, Claus H. ; Bojesen, Anders ; Sørensen, Kaspar ; Jørgensen, Niels ; Rajpert-De Meyts, Ewa ; Gerdes, Tommy ; Lind, Anne-Marie ; Kjaergaard, Susanne ; Juul, AndersAmerican journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1206-1212 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Maternal sex chromosome non-disjunction : evidence for X chromosome-specific risk factorsTHOMAS, N. Simon ; ENNIS, Sarah ; SHARP, Andrew J ; DURKIE, Miranda ; HASSOLD, Terry J ; COLLINS, Andrew R ; JACOBS, Patricia AHuman molecular genetics, 2001-02, Vol.10 (3), p.243-250 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent ModelClaus, Stephanie ; Fischer, Judith ; Mégarbané, Hala ; Mégarbané, André ; Jobard, Florence ; Debret, Romain ; Peyrol, Simone ; Saker, Safa ; Devillers, Martine ; Sommer, Pascal ; Damour, OdileJournal of investigative dermatology, 2008-06, Vol.128 (6), p.1442-1450 [Periódico revisado por pares]Danvers, MA: Elsevier IncTexto completo disponível |
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Hyaluronan and its receptors in mucoepidermoid carcinomaWein, Richard O. ; McGary, Carl T. ; Doerr, Timothy D. ; Popat, Saurin R. ; Howard, John L. ; Weigel, Janet A. ; Weigel, Paul H.Head & neck, 2006-02, Vol.28 (2), p.176-181 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Protective effect of alpha-tocopherol in head and neck cancer radiation-induced mucositis: A double-blind randomized trialFerreira, Paulo Renato ; Fleck, James Freitas ; Diehl, Ada ; Barletta, Daniela ; Braga-Filho, Aroldo ; Barletta, Antonio ; Ilha, LigiaHead & neck, 2004-04, Vol.26 (4), p.313-321 [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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Intrauterine diagnosis of sex chromosome aneuploidyLinden, Mary G. ; Bender, Bruce G. ; Robinson, ArthurObstetrics and gynecology (New York. 1953), 1996-03, Vol.87 (3), p.468-475 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |