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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R
Published 2017Journal article -
2
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? by Mastantuono, E, Repp, B, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJ, Scurr, I, De Coo, IF, Moroni, I, Smet, J, Mayr, JA, De Meirleir, L, Schuelke, M, Zeviani, M, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Strom, TM, Herberg, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S
Published 2019Conference item