Showing 1 - 5 results of 5 for search 'Mieke M. van Haelst', query time: 0.05s Refine Results
  1. 1
    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain by Mathew A. Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

    Published 2020-09-01
    Get full text
    Article
  2. 2
    De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

    De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies by Shirley Lo-A-Njoe, Lars T. van der Veken, Clementien Vermont, Louise Rafael-Croes, Vincent Keizer, Ron Hochstenbach, Nine Knoers, Mieke M. van Haelst

    Published 2016-01-01
    Get full text
    Article
  3. 3
    <em>GMDS</em> Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly

    <em>GMDS</em> Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly by Shirley M. Lo-A-Njoe, Eline A. Verberne, Lars T. van der Veken, Eric Arends, J. Peter van Tintelen, Alex V. Postma, Mieke M. van Haelst

    Published 2023-07-01
    Get full text
    Article
  4. 4
    Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

    Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review by Annelieke R. Müller, Erik Boot, Stijn B. Notermans, Carlo Schuengel, Lidewij Henneman, Martina C. Cornel, Mieke M. van Haelst, Mariëlle Alders, Clara D. M. van Karnebeek, Bas Bijl, Frits A. Wijburg, Agnies M. van Eeghen

    Published 2024-09-01
    Get full text
    Article
  5. 5
    CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

    CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature by Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

    Published 2025-01-01
    Get full text
    Article

Search Tools: