Resultados da pesquisa - van Ravenswaaij-Arts, Conny

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

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

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Clinical utility gene card for: CHARGE syndrome Por 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()() Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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? Por 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 Por 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 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.

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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.

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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 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

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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.

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Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region Por 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 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.

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Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism Por 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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