Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

por Overwater, Iris E, Rietman, André B, van Eeghen, Agnies M, de Wit, Marie Claire Y
Publicado 2019

Diagnosis of Guillain–Barré syndrome in children and validation of the Brighton criteria

por Roodbol, Joyce, de Wit, Marie-Claire Y., van den Berg, Bianca, Kahlmann, Vivienne, Drenthen, Judith, Catsman-Berrevoets, Coriene E., Jacobs, Bart C.
Publicado 2017

Combined cardiological and neurological abnormalities due to filamin A gene mutation

por de Wit, Marie Claire Y., de Coo, Irenaeus F. M., Lequin, Maarten H., Halley, Dicky J. J., Roos-Hesselink, Jolien W., Mancini, Grazia M. S.
Publicado 2010

Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study

por Mous, Sabine E., Overwater, Iris E., Vidal Gato, Rita, Duvekot, Jorieke, ten Hoopen, Leontine W., Lequin, Maarten H., de Wit, Marie-Claire Y., Dieleman, Gwendolyn C.
Publicado 2017

Human RAD50 deficiency: Confirmation of a distinctive phenotype

por Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.
Publicado 2020

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

por Smits, Daphne J., Schot, Rachel, Wilke, Martina, van Slegtenhorst, Marjon, de Wit, Marie Claire Y., Dremmen, Marjolein H.G., Dobyns, William B., Barkovich, A. James, Mancini, Grazia M.S.
Publicado 2021

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

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