Resultados da pesquisa - A.C.J. Gijsbers

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  1. 1
    A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

    A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents Por Jeroen Knijnenburg, Saskia A.J. Lesnik Oberstein, Klemens Frei, Trevor Lucas, A.C.J. Gijsbers, Claudia Ruivenkamp, Hans J. Tanke, Károly Szuhai

    Publicado em 2009
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  2. 2
    Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

    Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles Por Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers, Robin Andersson, Stephen W. Erickson, Teresita Díaz de Ståhl, Uwe Menzel, Johanna Sandgren, Désirée von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E. Christopher Partridge, Hemant K. Tiwari, David B. Allison, Jan Komorowski, Gert‐Jan B. van Ommen, Dorret I. Boomsma, Nancy L. Pedersen, Johan T. den Dunnen, Karin Wirdefeldt, Jan P. Dumanski

    Publicado em 2008
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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 Por Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Dietje E. Fransen van de Putte, Britt‐Marie Anderlid, Johanna Lundin, Pablo Lapunzina, L.A. Pérez Jurado, Barbara Delle Chiaie, Bart Loeys, Björn Menten, Anna Oostra, Hélène Verhelst, David J. Amor, Damien L. Bruno, A.J. van Essen, Roel Hordijk, Birgit Sikkema‐Raddatz, K. T. Verbruggen, M.C.J. Jongmans, Rolph Pfundt, H.M. Reeser, M.H. Breuning, Claudia Ruivenkamp

    Publicado em 2009
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  4. 4
    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 Por Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    Publicado em 2012
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