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Displaying 2 results.
    • Journal article
    Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
    Piard, J. Aral, B. Vabres, P. Holder-Espinasse, M. Mégarbané, A. Gauthier, S. Capra, V. Pierquin, G. Callier, P. Baumann, C. Pasquier, L. Baujat, G. Martorell, L. Rodriguez, A. Brady, A.F. Boralevi, F. González-Enseñat, M.A. Rio, M. Bodemer, C. Philip, N. Cordier, M.-P. Goldenberg, A. Demeer, B. Wright, M. Blair, E. Puzenat, E. Parent, P. Sznajer, Yves[UCL] Francannet, C. Didonato, N. Boute, O. Barlogis, V. Moldovan, O. Bessis, D. Coubes, C. Tardieu, M. Cormier-Daire, V. Sousa, A.B. Franques, J. Toutain, A. Tajir, M. Elalaoui, S.C. Geneviève, D. Thevenon, J. Courcet, J.-B. Rivière, J.-B. Collet, C. Gigot, N. Faivre, L. Thauvin-Robinet, C. (2015) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 87, no. 3, p. 244-251 (2015)
    • Journal article
    Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
    Saal, S. Faivre, L. Aral, Bernard Gigot, N. Toutain, A. Van Maldergem, L. Destree, A. Maystadt, I. Cosyns, Jean-Pierre[UCL] Jouk, P-S Loeys, B. Chauveau, D. Bieth, E. Layet, V. Mathieu, M. Lespinasse, J. Teebi, A. Franco, B. Gautier, E. Binquet, C. Masurel-Paulet, A. Mousson, C. Gouyon, J-B Huet, F. Thauvin-Robinet, C. (2010) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 77, no. 3, p. 258-265 (2010)