Found: 5

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  • De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
    By:
    • Hoischen, Alexander;
    • van Bon, Bregje W. M.;
    • Rodríguez-Santiago, Benjamín;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • de Vries, Petra;
    • Janssen, Irene;
    • van Lier, Bart;
    • Hastings, Rob;
    • Smithson, Sarah F.;
    • Newbury-Ecob, Ruth;
    • Kjaergaard, Susanne;
    • Goodship, Judith;
    • McGowan, Ruth;
    • Bartholdi, Deborah;
    • Rauch, Anita;
    • Peippo, Maarit;
    • Cobben, Jan M.;
    • Wieczorek, Dagmar;
    • Gillessen-Kaesbach, Gabriele
    Publication type:
    Article

  • A de novo paradigm for mental retardation.

    Published in:
    Nature Genetics, 2010, v. 42, n. 12, p. 1109, doi. 10.1038/ng.712
    By:
    • Vissers, Lisenka E. L. M.;
    • de Ligt, Joep;
    • Gilissen, Christian;
    • Janssen, Irene;
    • Steehouwer, Marloes;
    • de Vries, Petra;
    • van Lier, Bart;
    • Arts, Peer;
    • Wieskamp, Nienke;
    • del Rosario, Marisol;
    • van Bon, Bregje W. M.;
    • Hoischen, Alexander;
    • de Vries, Bert B. A.;
    • Brunner, Han G.;
    • Veltman, Joris A.
    Publication type:
    Article

  • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

    Published in:
    Nature Genetics, 2010, v. 42, n. 6, p. 483, doi. 10.1038/ng.581
    By:
    • Hoischen, Alexander;
    • van Bon, Bregje W. M.;
    • Gilissen, Christian;
    • Arts, Peer;
    • van Lier, Bart;
    • Steehouwer, Marloes;
    • de Vries, Petra;
    • de Reuver, Rick;
    • Wieskamp, Nienke;
    • Mortier, Geert;
    • Devriendt, Koen;
    • Amorim, Marta Z.;
    • Revencu, Nicole;
    • Kidd, Alexa;
    • Barbosa, Mafalda;
    • Turner, Anne;
    • Smith, Janine;
    • Oley, Christina;
    • Henderson, Alex;
    • Hayes, Ian M.
    Publication type:
    Article

  • BRCA Testing by Single-Molecule Molecular Inversion Probes.

    Published in:
    Clinical Chemistry, 2017, v. 63, n. 2, p. 503, doi. 10.1373/clinchem.2016.263897
    By:
    • Neveling, Kornelia;
    • Mensenkamp, Arjen R.;
    • Derks, Ronny;
    • Kwint, Michael;
    • Ouchene, Hicham;
    • Steehouwer, Marloes;
    • van Lier, Bart;
    • Bosgoed, Ermanno;
    • Rikken, Alwin;
    • Tychon, Marloes;
    • Zafeiropoulou, Dimitra;
    • Castelein, Steven;
    • Hehir-Kwa, Jayne;
    • Thung, Djie Tjwan;
    • Hofste, Tom;
    • Lelieveld, Stefan H.;
    • Bertens, Stijn M. M.;
    • Adan, Ivo B. J. F.;
    • Eijkelenboom, Astrid;
    • Tops, Bastiaan B.
    Publication type:
    Article

  • Translating Sanger-Based Routine DNA Diagnostics into Generic Massive Parallel Ion Semiconductor Sequencing.

    Published in:
    Clinical Chemistry, 2015, v. 61, n. 1, p. 154, doi. 10.1373/clinchem.2014.225250
    By:
    • Diekstra, Adinda;
    • Bosgoed, Ermanno;
    • Rikken, Alwin;
    • van Lier, Bart;
    • Kamsteeg, Erik-Jan;
    • Tychon, Marloes;
    • Derks, Ronny C.;
    • van Soest, Ronald A.;
    • Mensenkamp, Arjen R.;
    • Scheffer, Hans;
    • Neveling, Kornelia;
    • Nelen, Marcel R.
    Publication type:
    Article