Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach

por Dijk, Dieuwerke R, Bocca, Gianni, van Ravenswaaij-Arts, Conny M
Publicado 2019

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

por Corsten-Janssen, Nicole, van Ravenswaaij-Arts, Conny M.A., Kapusta, Livia
Publicado 2016

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

por Gustafson, Jonas, Bjork, Maria, van Ravenswaaij-Arts, Conny M. A., Cunningham, Michael L.
Publicado 2022

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

por Engwerda, Aafke, Kerstjens-Frederikse, Wilhelmina S., Corsten-Janssen, Nicole, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Publicado 2023

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

por Rraku, Eleana, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A., Engwerda, Aafke
Publicado 2023

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

por Zwanenburg, Renée J., Ruiter, Selma A.J., van den Heuvel, Edwin R., Flapper, Boudien C.T., Van Ravenswaaij-Arts, Conny M.A.
Publicado 2016

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

por Penders, Bas, Dijk, Dieuwerke R., Bocca, Gianni, Zimmermann, Luc J. I., van Ravenswaaij‐Arts, Conny M. A., Gerver, Willem‐Jan M.
Publicado 2019

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics

por Wulffaert, Josette, Scholte, Evert M., Dijkxhoorn, Yvette M., Bergman, Jorieke E. H., van Ravenswaaij-Arts, Conny M. A., van Berckelaer-Onnes, Ina A.
Publicado 2009

Copy number variation in a hospital‐based cohort of children with epilepsy

por Vlaskamp, Danique R. M., Callenbach, Petra M. C., Rump, Patrick, Giannini, Lucia A. A., Dijkhuizen, Trijnie, Brouwer, Oebele F., van Ravenswaaij‐Arts, Conny M. A.
Publicado 2017

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

por de Geus, Christa M., Free, Rolien H., Verbist, Berit M., Sival, Deborah A., Blake, Kim D., Meiners, Linda C., van Ravenswaaij‐Arts, Conny M. A.
Publicado 2017

Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial

por Zwanenburg, Renée J, Bocca, Gianni, Ruiter, Selma A J, Dillingh, Jan H, Flapper, Boudien C T, van den Heuvel, Edwin R, van Ravenswaaij-Arts, Conny M A
Publicado 2016

Understanding Behavior in Phelan-McDermid Syndrome

por Landlust, Annemiek M., Visser, Linda, Flapper, Boudien C. T., Ruiter, Selma A. J., Zwanenburg, Renée J., van Ravenswaaij-Arts, Conny M. A., van Balkom, Ingrid D. C.
Publicado 2022

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

por Engwerda, Aafke, Frentz, Barbara, den Ouden, A. Lya, Flapper, Boudien C. T., Swertz, Morris A., Gerkes, Erica H., Plantinga, Mirjam, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Publicado 2018

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

por Engwerda, Aafke, Frentz, Barbara, Rraku, Eleana, de Souza, Nadia F. Simoes, Swertz, Morris A., Plantinga, Mirjam, Kerstjens-Frederikse, Wilhelmina S., Ranchor, Adelita V., van Ravenswaaij-Arts, Conny M. A.
Publicado 2023

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

por Wong, Monica T. Y., Lambeck, Annechien J. A., van der Burg, Mirjam, la Bastide-van Gemert, Sacha, Hogendorf, Lianne A., van Ravenswaaij-Arts, Conny M. A., Schölvinck, Elisabeth H.
Publicado 2015

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

por van Heerwaarde, Alise A, Klomberg, Renz C W, van Ravenswaaij-Arts, Conny M A, Ploos van Amstel, Hans Kristian, Toekoen, Aartie, Jessurun, Fariza, Garg, Abhimanyu, van der Kaay, Daniëlle C M
Publicado 2021

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

por van Bever, Yolande, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Publicado 2020

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

por Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
Publicado 2016

GRIN2A-related disorders: genotype and functional consequence predict phenotype

por Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R
Publicado 2019

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

por van der Welle, Reini E N, Jobling, Rebekah, Burns, Christian, Sanza, Paolo, van der Beek, Jan A, Fasano, Alfonso, Chen, Lan, Zwartkruis, Fried J, Zwakenberg, Susan, Griffin, Edward F, ten Brink, Corlinda, Veenendaal, Tineke, Liv, Nalan, van Ravenswaaij‐Arts, Conny M A, Lemmink, Henny H, Pfundt, Rolph, Blaser, Susan, Sepulveda, Carolina, Lozano, Andres M, Yoon, Grace, Santiago‐Sim, Teresa, Asensio, Cedric S, Caldwell, Guy A, Caldwell, Kim A, Chitayat, David, Klumperman, Judith
Publicado 2021