Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome

por Bindels-de Heus, Karen G. C. B., Hagenaar, Doesjka A, Dekker, Ilonka, van der Kaay, Danielle C. M., Kerkhof, Gerthe F., Elgersma, Ype, de Wit, Marie-Claire Y., Mous, Sabine E., Moll, Henriette A.
Publicado 2023

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

por Bindels‐de Heus, Karen G. C. B., Mous, Sabine E., ten Hooven‐Radstaake, Maartje, van Iperen‐Kolk, Bianca M., Navis, Cindy, Rietman, André B., ten Hoopen, Leontine W., Brooks, Alice S., Elgersma, Ype, Moll, Henriëtte A., de Wit, Marie‐Claire Y.
Publicado 2019

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

por Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago
Publicado 2022

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

por Duis, Jessica, Nespeca, Mark, Summers, Jane, Bird, Lynne, Bindels‐de Heus, Karen G.C.B., Valstar, M. J., de Wit, Marie‐Claire Y., Navis, C., ten Hooven‐Radstaake, Maartje, van Iperen‐Kolk, Bianca M., Ernst, Susan, Dendrinos, Melina, Katz, Terry, Diaz‐Medina, Gloria, Katyayan, Akshat, Nangia, Srishti, Thibert, Ronald, Glaze, Daniel, Keary, Christopher, Pelc, Karine, Simon, Nicole, Sadhwani, Anjali, Heussler, Helen, Wheeler, Anne, Woeber, Caroline, DeRamus, Margaret, Thomas, Amy, Kertcher, Emily, DeValk, Lauren, Kalemeris, Kristen, Arps, Kara, Baym, Carol, Harris, Nicole, Gorham, John P., Bohnsack, Brenda L., Chambers, Reid C., Harris, Sarah, Chambers, Henry G., Okoniewski, Katherine, Jalazo, Elizabeth R., Berent, Allyson, Bacino, Carlos A., Williams, Charles, Anderson, Anne
Publicado 2022