Research output per year
Research output per year
Search results
-
2022
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 AccessFile10 Citations (Scopus)29 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 AccessFile1 Citation (Scopus)46 Downloads (Pure)