Research output per year
Research output per year
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Dive into the research topics where Marie Claire de Wit is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist
Mancini, G. M. S., Smits, D. J., Dekker, J., Schot, R., de Wit, M. C. Y., Lequin, M. H., Dremmen, M., Brooks, A. S., van Ham, T., Verheijen, F. W., Fornerod, M., Dobyns, W. B. & Wilke, M., Nov 2021, In: European Journal of Paediatric Neurology. 35, p. 27-34 8 p.Research output: Contribution to journal › Review article › Popular
Open AccessFile7 Downloads (Pure) -
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Heus, K., Mous, S., Radstaake, M., Kolk, B., Navis, C., Rietman, A., Hoopen, L., Brooks, A., Elgersma, Y., Moll, H. & Wit, M. C., 2020, In: American Journal of Medical Genetics, Part A. 182, p. 53-63 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile14 Citations (Scopus)1 Downloads (Pure) -
Counselling in tuberous sclerosis complex: A survey on content and satisfaction in the Netherlands
Hulshof, H. M., Brenner, J., Overwater, I., de Wit, M. C., Braun, KP. & Jansen, FE., 2020, In: European Journal of Paediatric Neurology. 25, p. 113-119 7 p.Research output: Contribution to journal › Article › Academic
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome
Bar, C., Kuchenbuch, M., Barcia, G., Schneider, A., Jennesson, M., Le Guyader, G., Lesca, G., Mignot, C., Montomoli, M., Parrini, E., Isnard, H., Rolland, A., Keren, B., Afenjar, A., Dorison, N., Sadleir, LG., Breuillard, D., Levy, R., Rio, M., Dupont, S. & 41 others, , 2020, In: Epilepsia. 61, 11, p. 2461-2473 13 p.Research output: Contribution to journal › Article › Academic › peer-review
8 Citations (Scopus) -
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Groeneweg, S., van Geest, F., Abaci, A., Alcantud, A., Ambegaonkar, GP., Armour, CM., van Beynum, I., Coo, IFM., Dolcetta-Capuzzo, A., Dremmen, M., van der Knoop, M., de Wit, M. C., Uil, C., Zwaveling-Soonawala, N. & Visser, E., 2020, In: The Lancet Diabetes and Endocrinology. 8, 7, p. 594-605 12 p.Research output: Contribution to journal › Article › Academic
16 Citations (Scopus)