Search Results - Bijlsma, E.K

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  1. 1
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation by Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L

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  2. 2
    Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

    Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome by Koutsopoulos, Olga S, Kretz, Christine, Weller, Claudia M, Roux, Aurelien, Mojzisova, Halina, Böhm, Johann, Koch, Catherine, Toussaint, Anne, Heckel, Emilie, Stemkens, Daphne, Ter Horst, Simone A J, Thibault, Christelle, Koch, Muriel, Mehdi, Syed Q, Bijlsma, Emilia K, Mandel, Jean-Louis, Vermot, Julien, Laporte, Jocelyn

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  3. 3
    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals by Bijlsma, E.K, Gijsbers, A.C.J, Schuurs-Hoeijmakers, J.H.M, van Haeringen, A, Fransen van de Putte, D.E, Anderlid, B.-M, Lundin, J, Lapunzina, P, Pérez Jurado, L.A, Delle Chiaie, B, Loeys, B, Menten, B, Oostra, A, Verhelst, H, Amor, D.J, Bruno, D.L, van Essen, A.J, Hordijk, R, Sikkema-Raddatz, B, Verbruggen, K.T, Jongmans, M.C.J, Pfundt, R, Reeser, H.M, Breuning, M.H, Ruivenkamp, C.A.L

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  4. 4
    Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

    Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience by van Karnebeek, C D M, Koevoets, C, Sluijter, S, Bijlsma, E K, Smeets, D F M C, Redeker, E J, Hennekam, R C M, Hoovers, J M N

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  5. 5
    O-169. Reproductive decisions of men with microdeletions of the Y chromosome: the role of genetic counselling

    O-169. Reproductive decisions of men with microdeletions of the Y chromosome: the role of genetic counselling by Van Golde, R.J.T., Nap, A.W., Tuerlings, J.H.A.M., De, Sutter P., Pieters, M.H.E.C., Giltay, J.C., Kastrop, P.M.M., Bijlsma, E.K., Braat, D.D.M., Kremer, J.A.M.

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  6. 6
    A Pstl polymorphism associated with CRYBA4 on human chromosome 22

    A Pstl polymorphism associated with CRYBA4 on human chromosome 22 by BijIsma, E.K., Hulsebos, T.J.M.

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