Zobrazuji výsledky 1 - 9 z 9 pro vyhledávání 'Conny M A van Ravenswaaij‐Arts', doba hledání: 1,72 s. Upřesnit hledání
  1. 1
    Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

    Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity Autor Nicole Corsten-Janssen, Conny M.A. van Ravenswaaij-Arts, Livia Kapusta

    Vydáno 2016-09-01
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  2. 2
    Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

    Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis Autor Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham

    Vydáno 2022-01-01
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  3. 3
    The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

    The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1 Autor Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts

    Vydáno 2023-03-01
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  4. 4
    The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

    The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review Autor Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda

    Vydáno 2023-03-01
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  5. 5
    Understanding Behavior in Phelan-McDermid Syndrome

    Understanding Behavior in Phelan-McDermid Syndrome Autor Annemiek M. Landlust, Annemiek M. Landlust, Linda Visser, Linda Visser, Boudien C. T. Flapper, Boudien C. T. Flapper, Boudien C. T. Flapper, Selma A. J. Ruiter, Renée J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom, Ingrid D. C. van Balkom

    Vydáno 2022-05-01
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  6. 6
    Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

    Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability Autor Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts

    Vydáno 2023-03-01
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  7. 7
    Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

    Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. Autor Monica T Y Wong, Annechien J A Lambeck, Mirjam van der Burg, Sacha la Bastide-van Gemert, Lianne A Hogendorf, Conny M A van Ravenswaaij-Arts, Elisabeth H Schölvinck

    Vydáno 2015-01-01
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  8. 8
    Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

    Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation Autor Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman

    Vydáno 2021-04-01
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  9. 9
    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis Autor Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke

    Vydáno 2019-06-01
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