检索结果 - van Ravenswaaij-Arts, Conny M.A.

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

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

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Duplication 2p25 in a Child with Clinical Features of CHARGE Syndrome 由 Sperry, Ethan D., Schuette, Jane L., van Ravenswaaij-Arts, Conny M. A., Green, Glenn E., Martin, Donna M.

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

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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry 由 Penders, Bas, Dijk, Dieuwerke R., Bocca, Gianni, Zimmermann, Luc J. I., van Ravenswaaij‐Arts, Conny M. A., Gerver, Willem‐Jan M.

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Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics 由 Wulffaert, Josette, Scholte, Evert M., Dijkxhoorn, Yvette M., Bergman, Jorieke E. H., van Ravenswaaij-Arts, Conny M. A., van Berckelaer-Onnes, Ina A.

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

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Guidelines in CHARGE syndrome and the missing link: Cranial imaging 由 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.

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

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Understanding Behavior in Phelan-McDermid Syndrome 由 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.

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

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Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism 由 van Silfhout, Anneke T, van den Akker, Peter C, Dijkhuizen, Trijnie, Verheij, Joke B G M, Olderode-Berends, Maran J W, Kok, Klaas, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M A

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

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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans 由 Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.

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

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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility 由 Engwerda, Aafke, Leenders, Erika K. S. M., Frentz, Barbara, Terhal, Paulien A., Löhner, Katharina, de Vries, Bert B. A., Dijkhuizen, Trijnie, Vos, Yvonne J., Rinne, Tuula, van den Berg, Maarten P., Roofthooft, Marc T. R., Deelen, Patrick, van Ravenswaaij-Arts, Conny M. A., Kerstjens-Frederikse, Wilhelmina S.

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Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources 由 de Leeuw, Nicole, Dijkhuizen, Trijnie, Hehir-Kwa, Jayne Y., Carter, Nigel P., Feuk, Lars, Firth, Helen V., Kuhn, Robert M., Ledbetter, David H., Martin, Christa Lese, van Ravenswaaij-Arts, Conny M. A., Scherer, Steven W., Shams, Soheil, Van Vooren, Steven, Sijmons, Rolf, Swertz, Morris, Hastings, Ros

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

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Diagnostic Genome Profiling in Mental Retardation 由 de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements 由 Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter

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