Research output per year
Research output per year
- 3 results
Search results
-
2022
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
Duis, J., Nespeca, M., Summers, J., Bird, L., Bindels-de Heus, K. G. C. B., Valstar, M. J., de Wit, M. C. Y., Navis, C., ten Hooven-Radstaake, M., van Iperen-Kolk, B. M., Ernst, S., Dendrinos, M., Katz, T., Diaz-Medina, G., Katyayan, A., Nangia, S., Thibert, R., Glaze, D., Keary, C. & Pelc, K. & 24 others, , Mar 2022, In: Molecular Genetics and Genomic Medicine. 10, 3, e1843.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile41 Citations (Scopus)528 Downloads (Pure) -
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
Douzgou, S., Rawson, M., Baselga, E., Danielpour, M., Faivre, L., Kashanian, A., Keppler-Noreuil, K. M., Kuentz, P., Mancini, G. M. S., Maniere, M. C., Martinez-Glez, V., Parker, V. E., Semple, R. K., Srivastava, S., Vabres, P., De Wit, M. C. Y., Graham, J. M., Clayton-Smith, J., Mirzaa, G. M. & Biesecker, L. G., Jan 2022, In: Clinical Genetics. 101, 1, p. 32-47 16 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile31 Citations (Scopus)269 Downloads (Pure) -
2021
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 AccessFile2 Citations (Scopus)120 Downloads (Pure)