Search Results - Mau-Them, Ft

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    Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

    Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases by Colin, E, Duffourd, Y, Callier, P, Tisserant, E, Besnard, T, Goldenberg, A, Cogne, B, Isidor, B, Sorlin, A, Moutton, S, Delanne, J, Bruel, Al, Mau-Them, Ft, Denomme-Pichon, As, Fradin, M, Dubourg, C, Gorce, M, El Chehadeh, S, Debray, Fg, Fenzy, Md, Uguen, K, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, D, Philippe, C, Thauvin-Robinet, C, Faivre, L, Vitobello, A

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    Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95

    Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95 by Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A, Tumer, Z

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