Search Results - Stella A. deMan

  • Showing 1 - 2 results of 2
Refine Results
  1. 1
    The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

    The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course by Willemijn F. E. Kuper, Claudia vanAlfen, Linda vanEck, Stella A. deMan, Marjolein H. Willemsen, Koen L. I. vanGassen, Monique Losekoot, Peter M. vanHasselt

    Published 2020-03-01
    Get full text
    Article
    Save to List
    Saved in:
  2. 2
    The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

    The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 by Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries

    Published 2022-10-01
    Get full text
    Article
    Save to List
    Saved in:

Search Tools: