Search Results - "Balkom, I. D. C."

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

“…Background Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability…”
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Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism by van Balkom, I. D. C., Shaw, A., Vuijk, P. J., Franssens, M., Hoek, H. W., Hennekam, R. C. M.

“…Background  Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation…”
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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome by van Eeghen, A.M., Stemkens, D., Fernández-Fructuoso, José Ramón, Maruani, A., Hadzsiev, K., Gaasterland, C.M.W., Klein Haneveld, M.J., Vyshka, Klea, Hugon, A., van Eeghen, A.M., Alhambra, Norma, Anderlid, Britt-Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Fernández-Fructuoso, José Ramón, Grabrucker, Andreas M., Gunnarson, Cecilia, Hadzsiev, Kinga, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., Kuiper, Els, Landlust, Annemiek M., Lapunzina, Pablo, Loth, Eva, Mansour, Sahar, Maruani, Anna, Mattina, Teresa, Matulevičienė, Aušra, Nevado, Julián, Parker, Susanne, Robert, Sandra, Sala, Carlo, San José Cáceres, Antonia, Schön, Michael, Šiaurytė, Kamilė, Stemkens, Daphne, Stiefsohn, Dominique, Swillen, Ann, Tabet, Anne C., Toro, Roberto, Turner, Alison, van Balkom, Ingrid D.C., van Buggenhout, Griet, van Eeghen, Agnies M., van Ravenswaaij-Arts, Conny M.A., van Weering, Sabrina, Verpelli, Chiara, Vignes, Stephane, Vogels, Annick, Vyshka, Klea, Walinga, Margreet, van Balkom, I.D.C.

“…The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we…”
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Dynamic Interactive Social Cognition Training in Virtual Reality (DiSCoVR) for adults with Autism Spectrum Disorder: A feasibility study by van Pelt, B.J., Nijman, S.A., van Haren, N.E.M., Veling, W., Pijnenborg, G.H.M., van Balkom, I.D.C., Landlust, A.M., Greaves-Lord, K.

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Transcranial magnetic stimulation in obsessive compulsive disorder: a systematic review by Euser, A M, Stapert, A F, Oosterhoff, M, van Balkom, I D C, Figee, M

“…Ten per cent of patients with obsessive-compulsive disorder (ocd) are resistant to treatment. For these patients, repetitive transcranial magnetic stimulation…”
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The social dimension of quality of life within the care for adults with autism; two philosophical concepts that may provide practical tools to caregivers by van der Laan, E P, Euser, A M, van Balkom, I D C

“…The conceptualisation of quality of life of adults in treatment for autism has received very little attention in the medical literature. To clarify, from a…”
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Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism: Behaviour in Marshall-Smith syndrome by van Balkom, I. D. C., Shaw, A., Vuijk, P. J., Franssens, M., Hoek, H. W., Hennekam, R. C. M.

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Mental retardation, "coarse" face, and hyperbreathing: Confirmation of the Pitt-Hopkins syndrome by Van Balkom, Inge D.C., Quartel, Sytze, Hennekam, Raoul C.M.

“…We present a patient with distinctive clinical manifestations resembling those first described by Pitt and Hopkins in 1978 [Aust Pediatr J 14:182–184] as a…”
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Dermal eccrine cylindromatosis by van Balkom, I D, Hennekam, R C

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Partial monosomy 8p and partial trisomy 8p with moderate mental retardation by van Balkom, I D, Hagendoorn, J, De Pater, J M, Hennekam, R C

“…A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21---pter). She…”
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