Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

by Nicole Corsten-Janssen, Conny M.A. van Ravenswaaij-Arts, Livia Kapusta
Published 2016-09-01

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

by 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
Published 2015-01-01

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

by 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
Published 2021-05-01

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

by 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
Published 2019-06-01