檢索結果 - Conny M.A. van Ravenswaaij‐Arts

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  1. 1
    Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

    Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome 由 M. Albert Basson, Conny M.A. van Ravenswaaij‐Arts

    出版 2015
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  2. 2
    New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

    New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries 由 Conny M.A. van Ravenswaaij‐Arts, Donna M. Martin

    出版 2017
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  3. 3
    Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

    Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder 由 Sophie van Rijn, Lex Stockmann, Griet Van Buggenhout, Conny M.A. van Ravenswaaij‐Arts, Hanna Swaab

    出版 2014
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  4. 4
    Telomeres: a diagnosis at the end of the chromosomes

    Telomeres: a diagnosis at the end of the chromosomes 由 L. B. A. De Vries, R M Winter, Albert Schinzel, Conny M.A. van Ravenswaaij‐Arts

    出版 2003
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  5. 5
    Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

    Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children 由 Renée J. Zwanenburg, Selma Ruiter, Edwin R. van den Heuvel, Boudien Flapper, Conny M.A. van Ravenswaaij‐Arts

    出版 2016
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  6. 6
    CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

    CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype 由 Jorieke E. H. Bergman, Natasja I. Janssen, Lies H. Hoefsloot, Marjolijn C.J. Jongmans, Robert M.W. Hofstra, Conny M.A. van Ravenswaaij‐Arts

    出版 2011
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  7. 7
    Guidelines in CHARGE syndrome and the missing link: Cranial imaging

    Guidelines in CHARGE syndrome and the missing link: Cranial imaging 由 Christa M. de Geus, Rolien H. Free, Berit M. Verbist, Deborah A. Sival, Kim Blake, Linda C. Meiners, Conny M.A. van Ravenswaaij‐Arts

    出版 2017
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  8. 8
    The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

    The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports 由 Aafke Engwerda, Barbara Frentz, A. Lya den Ouden, Boudien Flapper, Morris A. Swertz, Erica H. Gerkes, Mirjam Plantinga, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    出版 2018
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  9. 9
    The introduction of arrays in prenatal diagnosis: A special challenge

    The introduction of arrays in prenatal diagnosis: A special challenge 由 Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic McMullan, Joris Vermeesch, Konstantin Miller, Birgit Sikkema‐Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij‐Arts

    出版 2012
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  10. 10
    Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey

    Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey 由 Annemiek Landlust, Sylvia A. Koza, Maya J. Carbin, Margreet Walinga, Sandra Robert, Jennifer Cooke, Klea Vyshka, Ingrid D. C. van Balkom, Conny M.A. van Ravenswaaij‐Arts

    出版 2023
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  11. 11
    Mutation update on the CHD7 gene involved in CHARGE syndrome

    Mutation update on the CHD7 gene involved in CHARGE syndrome 由 Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjærg, Marianne Lodahl, Jeroen Schoots, Robert M.W. Hofstra, Conny M.A. van Ravenswaaij‐Arts, Lies H. Hoefsloot

    出版 2012
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  12. 12
    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome 由 Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij‐Arts, Raoul C. M. Hennekam

    出版 2023
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  13. 13
    The Results of<i>CHD7</i>Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome

    The Results of<i>CHD7</i>Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome 由 Jorieke E. H. Bergman, Willem de Ronde, Marjolijn C.J. Jongmans, Bruce H. R. Wolffenbuttel, S L S Drop, Ad R. Hermus, Gianni Bocca, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij‐Arts

    出版 2012
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  14. 14
    Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) 由 Mireille Claustres, Viktor Kožich, Elisabeth Dequeker, Brain Fowler, Jayne Y. Hehir‐Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny M.A. van Ravenswaaij‐Arts, Uwe Zimmermann, Orsetta Zuffardi, Ros Hastings, David Barton

    出版 2013
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  15. 15
    Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

    Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome 由 Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael P. Schön, Andreas M. Grabrucker, Conny M.A. van Ravenswaaij‐Arts, Katy Phelan, Anne‐Claude Tabet, Thomas Bourgeron

    出版 2023
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  16. 16
    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated 由 Nicole Corsten‐Janssen, Sulagna C. Saitta, Lies H. Hoefsloot, Donna M. McDonald‐McGinn, D.A. Driscoll, Ronny Derks, Kimberley Dickinson, Wilhelmina S. Kerstjens‐Frederikse, Beverly S. Emanuel, Elaine H. Zackai, Conny M.A. van Ravenswaaij‐Arts

    出版 2013
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  17. 17
    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome 由 Jorieke E. H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E. K. de Walle, Jeroen Schoots, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij‐Arts, Robert M.W. Hofstra

    出版 2012
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  18. 18
    Phelan-McDermid syndrome: a classification system after 30 years of experience

    Phelan-McDermid syndrome: a classification system after 30 years of experience 由 Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny M.A. van Ravenswaaij‐Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett, Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron

    出版 2022
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  19. 19
    Towards a European consensus for reporting incidental findings during clinical NGS testing

    Towards a European consensus for reporting incidental findings during clinical NGS testing 由 Jayne Y. Hehir‐Kwa, Mireille Claustres, Ros Hastings, Conny M.A. van Ravenswaaij‐Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon‐Thomsen, Philippos C. Patsalis, Joris Vermeesch, Martina C. Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier Estivill, Peter N. Robinson

    出版 2015
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  20. 20
    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics 由 Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes, Lamberta K Leegte, Klaas Kok, Richard J. Sinke, Conny M.A. van Ravenswaaij‐Arts

    出版 2011
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