検索結果 - Turleau, Catherine

Monosomy 18p 著者: Turleau, Catherine

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Distal Xq duplication and functional Xq disomy 著者: Sanlaville, Damien, Schluth-Bolard, Caroline, Turleau, Catherine

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A new G to T polymorphism in the retinoblastoma gene RB1 detected by DGGE 著者: Blanquet, Véronique, Turleau, Catherine, Goossens, Michel, Besmond, Claude

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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition 著者: Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence

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Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome 著者: Lüdecke, Hermann-Josef, Johnson, Carey, Wagner, Michael J., Wells, Dan E., Turleau, Catherine, Tommerup, Niels, Latos-Bielenska, Anna, Sandig, Klaus-Rainer, Meinecke, Peter, Zabel, Bernhard, Horsthemke, Bernhard

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Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth 著者: Malan, Valérie, Chevallier, Suzanne, Soler, Gwendoline, Coubes, Christine, Lacombe, Didier, Pasquier, Laurent, Soulier, Jean, Morichon-Delvallez, Nicole, Turleau, Catherine, Munnich, Arnold, Romana, Serge, Vekemans, Michel, Cormier-Daire, Valérie, Colleaux, Laurence

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