检索结果 - van Ravenswaaij-Arts, Conny

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

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Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach 由 Dijk, Dieuwerke R, Bocca, Gianni, van Ravenswaaij-Arts, Conny M

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Clinical utility gene card for: CHARGE syndrome 由 Blake, Kim, van Ravenswaaij-Arts, Conny MA, Hoefsloot, Lies, Verloes, Alain

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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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AB022. External quality assessment of clinical genetics: from pilot assessment to full external quality assurance scheme 由 Hastings, Rosalind, van Ravenswaaij-Arts, Conny, van Asperen, Christi, Peterlin, Borut, Garavelli, 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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Study of smell and reproductive organs in a mouse model for CHARGE syndrome 由 Bergman, Jorieke EH, Bosman, Erika A, van Ravenswaaij-Arts, Conny MA, Steel, Karen P

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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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Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles? 由 Dul, Elsbeth, van Echten-Arends, Jannie, Groen, Henk, Kastrop, Peter, Amory-van Wissen, Lucie, Engelen, John, Land, Jolande, Coonen, Edith, van Ravenswaaij-Arts, Conny

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Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome 由 Yu, Tian, Meiners, Linda C, Danielsen, Katrin, Wong, Monica TY, Bowler, Timothy, Reinberg, Danny, Scambler, Peter J, van Ravenswaaij-Arts, Conny MA, Basson, M Albert

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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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Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region 由 Donovan, Alex P. A., Yu, Tian, Ellegood, Jacob, Riegman, Kimberley L. H., de Geus, Christa, van Ravenswaaij-Arts, Conny, Fernandes, Cathy, Lerch, Jason P., Basson, M. Albert

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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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