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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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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Le Gall, Jessica ; Nizon, Mathilde ; Pichon, Olivier ; Andrieux, Joris ; Audebert-Bellanger, Séverine ; Baron, Sabine ; Beneteau, Claire ; Bilan, Frédéric ; Boute, Odile ; Busa, Tiffany ; Cormier-Daire, Valérie ; Ferec, Claude ; Fradin, Mélanie ; Gilbert-Dussardier, Brigitte ; Jaillard, Sylvie ; Jønch, Aia ; Martin-Coignard, Dominique ; Mercier, Sandra ; Moutton, Sébastien ; Rooryck, Caroline ; Schaefer, Elise ; Vincent, Marie ; Sanlaville, Damien ; Le Caignec, Cédric ; Jacquemont, Sébastien ; David, Albert ; Isidor, BertrandEuropean journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.930-934 [Periódico revisado por pares]England: Nature Publishing GroupTexto 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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Triple X syndrome: a review of the literatureOTTER, Maarten ; SCHRANDER-STUMPEL, Constance T. R. M ; CURFS, Leopold M. GEuropean journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Structural and numerical changes of chromosome X in patients with esophageal atresiaBrosens, Erwin ; de Jong, Elisabeth M ; Barakat, Tahsin Stefan ; Eussen, Bert H ; D'haene, Barbara ; De Baere, Elfride ; Verdin, Hannah ; Poddighe, Pino J ; Galjaard, Robert-Jan ; Gribnau, Joost ; Brooks, Alice S ; Tibboel, Dick ; de Klein, AnneliesEuropean journal of human genetics : EJHG, 2014-09, Vol.22 (9), p.1077-1084 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Parental origin and mechanisms of formation of triploidy: a study of 25 casesBaumer, A ; Balmer, D ; Binkert, F ; Schinzel, AEuropean journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.911-917 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Isochromosome 18p results from maternal meiosis II nondisjunctionKotzot, D ; Bundscherer, G ; Bernasconi, F ; Brecevic, L ; Lurie, I W ; Basaran, S ; Baccicchetti, C ; Höller, A ; Castellan, C ; Braun-Quentin, C ; Pfeiffer, R A ; Schinzel, AEuropean journal of human genetics : EJHG, 1996, Vol.4 (3), p.168-174 [Periódico revisado por pares]EnglandTexto completo disponível |
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Children with sex chromosome trisomies: parental disclosure of genetic statusGratton, Nikki C ; Myring, Jessica ; Middlemiss, Prisca ; Shears, Deborah ; Wellesley, Diana ; Wynn, Sarah ; Bishop, Dorothy Vm ; Scerif, GaiaEuropean journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.638-644 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Guidelines for the appropriate use of genetic tests in infertile couplesForesta, Carlo ; Ferlin, Alberto ; Gianaroli, Luca ; Dallapiccola, BrunoEuropean journal of human genetics : EJHG, 2002-05, Vol.10 (5), p.303-312 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressorAksit, Melis A ; Yu, Bo ; Roelen, Bernard A J ; Migeon, Barbara REuropean journal of human genetics : EJHG, 2024-04, Vol.32 (4), p.399-406 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |