Rett syndrome and long-term disorder profile von Smeets, Eric E.J., Chenault, Mickey, Curfs, Leopold M.G., Schrander-Stumpel, Connie T.R.M., Frijns, Jean-Pierre

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The development of visual- and auditory processing in Rett syndrome: An ERP study von Stauder, Johannes E.A., Smeets, Eric E.J., van Mil, Saskia G.M., Curfs, Leopold G.M.

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability von Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H. G.

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Management of a severe forceful breather with Rett Syndrome using carbogen von Smeets, Eric E.J., Julu, Peter O.O., van Waardenburg, Dick, Engerström, Ingegerd Witt, Hansen, Stig, Apartopoulos, Flora, Curfs, Leopold M.G., Schrander-Stumpel, Connie T.R.M.

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Rett Syndrome von Smeets, E.E.J., Pelc, K., Dan, B.

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Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography von de Breet, Laurèl H.M., Townend, Gillian S., Curfs, Leopold M.G., Kingma, Herman, Smeets, Eric E.J., Lucieer, Floor, Widdershoven, Josine, van de Berg, Raymond

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Oxygen radical formation during prostaglandin H synthase-mediated biotransformation of butylated hydroxyanisole von Schilderman, P.A.E.L., van Maanen, J.M.S., Smeets, E.J., Hoor, F.ten, Kleinjans, J.C.S.

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Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice von Halbach, Nicky S.J., Smeets, Eric E.J., van den Braak, Noortje, van Roozendaal, Kees E.P., Blok, Rien M.J., Schrander-Stumpel, Constance T.R.M., Frijns, Jean-Pierre, Maaskant, Marian A., Curfs, Leopold M.G.

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Is pre-emptive strict isolation of patients at high risk of colonization with MRSA still required in low-prevalence countries? von van Tiel, F.H, Smeets, E.E.J, Bruggeman, C.A, Nelemans, P, Stobberingh, E.E

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Aging in people with specific genetic syndromes: Rett syndrome von Halbach, Nicky S.J., Smeets, Eric E.J., Schrander-Stumpel, Connie T.R.M., van Schrojenstein Lantman de Valk, Henny H.J., Maaskant, Marian A., Curfs, Leopold M.G.

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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations von Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W.M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L.E, Smeets, Eric E.J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J.J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine, Kleefstra, Tjitske

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Noonan-Like/Multiple Giant Cell Lesion Syndrome: Report of a Case and Review of the Literature von Wolvius, Eppo B., de Lange, Jan, Smeets, Erik E.J., van der Wal, Karel G.H., van den Akker, Hans P.

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Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females ( MECP2) von Moog, Ute, Smeets, Eric EJ, van Roozendaal, Kees EP, Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lenssen, Anneke MJ, Schrander-Stumpel, Connie TRM

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Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice von Halbach, Nicky S.J, Smeets, Eric E.J, van den Braak, Noortje, van Roozendaal, Kees E.P, Blok, Rien M.J, Schrander-Stumpel, Constance T.R.M, Fryns, Jean-Pierre, Maaskant, Marian A, Curfs, Leopold M.G

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Rett syndrome and long-term disorder profile von Smeets, Eric E.J, Chenault, Mickey, Curfs, Leopold M.G, Schrander-Stumpel, Connie T.R.M, Fryns, Jean-Pierre

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Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view von Van Der Velden, Jaap J. A. J., Vreeburg, Maaike, Smeets, Eric E. J., Schrander‐Stumpel, Constance T. R. M., Van Steensel, Maurice A. M.

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Subtelomeric chromosome aberrations: still a lot to learn von Moog, U, Arens, YHJM, Van Lent-Albrechts, JCM, Huijts, PEA, Smeets, EEJ, Schrander-Stumpel, CTRM, Engelen, JJM

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Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome von Halbach, Nicky S. J., Smeets, Eric E. J., Bierau, Jörgen, Keularts, Irene M. L. W., Plasqui, Guy, Julu, Peter O. O., Engerström, Ingegerd Witt, Bakker, Jaap A., Curfs, Leopold M. G.

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Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015) von Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W.M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L.E, Smeets, Eric E.J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J.J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine, Kleefstra, Tjitske

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans von Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E, Hofstra, Robert, de Coo, Irenaeus Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

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