Found: 5

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  • Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
    By:
    • Dingemans, Alexander J. M.;
    • Stremmelaar, Diante E.;
    • Vissers, Lisenka E. L. M.;
    • Jansen, Sandra;
    • Nabais Sá, Maria J.;
    • an Remortele, Angela v;
    • Jonis, Noraly;
    • Truijen, Kim;
    • van de Ven, Sam;
    • Ewals, Jeroen;
    • Verbruggen, Michel;
    • Koolen, David A.;
    • Brunner, Han G.;
    • Eichler, Evan E.;
    • Gecz, Jozef;
    • de Vries, Bert B. A.
    Publication type:
    Article

  • Behavior and cognitive functioning in Witteveen–Kolk syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2384, doi. 10.1002/ajmg.a.61775
    By:
    • Dongen, Linde C. M.;
    • Wingbermühle, Ellen;
    • Dingemans, Alexander J. M.;
    • Bos‐Roubos, Anja G.;
    • Vermeulen, Karlijn;
    • Pop‐Purceleanu, Monica;
    • Kleefstra, Tjitske;
    • Egger, Jos I. M.
    Publication type:
    Article

  • The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

    Published in:
    Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
    By:
    • Dingemans, Alexander J. M.;
    • Truijen, Kim M. G.;
    • van de Ven, Sam;
    • Bernier, Raphael;
    • Bongers, Ernie M. H. F.;
    • Bouman, Arjan;
    • de Graaff – Herder, Laura;
    • Eichler, Evan E.;
    • Gerkes, Erica H.;
    • De Geus, Christa M.;
    • van Hagen, Johanna M.;
    • Jansen, Philip R.;
    • Kerkhof, Jennifer;
    • Kievit, Anneke J. A.;
    • Kleefstra, Tjitske;
    • Maas, Saskia M.;
    • de Man, Stella A.;
    • McConkey, Haley;
    • Patterson, Wesley G.;
    • Dobson, Amy T.
    Publication type:
    Article

  • Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life.

    Published in:
    Clinical Ophthalmology, 2017, v. 11, p. 39, doi. 10.2147/OPTH.S115685
    By:
    • Breukink, Myrte B.;
    • Dingemans, Alexander J. M.;
    • den Hollander, Anneke I.;
    • Keunen, Jan E. E.;
    • MacLaren, Robert E.;
    • Fauser, Sascha;
    • Querques, Giuseppe;
    • Hoyng, Carel B.;
    • Downes, Susan M.;
    • Boon, Camiel J. F.
    Publication type:
    Article

  • A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
    By:
    • van der Sluijs, Pleuntje J.;
    • Alders, Mariëlle;
    • Dingemans, Alexander J. M.;
    • Parbhoo, Kareesma;
    • van Bon, Bregje W.;
    • Dempsey, Jennifer C.;
    • Doherty, Dan;
    • den Dunnen, Johan T.;
    • Gerkes, Erica H.;
    • Milller, Ilana M.;
    • Moortgat, Stephanie;
    • Regier, Debra S.;
    • Ruivenkamp, Claudia A. L.;
    • Schmalz, Betsy;
    • Smol, Thomas;
    • Stuurman, Kyra E.;
    • Vincent-Delorme, Catherine;
    • de Vries, Bert B. A.;
    • Sadikovic, Bekim;
    • Hickey, Scott E.
    Publication type:
    Article