1993 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Margherita Estienne is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 11 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Orcesi Simona, 2020, In : Human Mutation. 41, 4, p. 837-849 13 p.

Research output: Contribution to journalArticle

  • 16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

    Ciaccio, C., Tucci, A., Scuvera, G., Estienne, M., Esposito, S. & Milani, D., Mar 1 2017, In : European Journal of Medical Genetics. 60, 3, p. 159-162 4 p.

    Research output: Contribution to journalArticle

  • Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome

    Novara, F., Groeneweg, S., Freri, E., Estienne, M., Reho, P., Matricardi, S., Matricardi, S., Castellotti, B., Visser, W. E., Zuffardi, O. & Visser, T. J., Mar 1 2017, In : Human Mutation. 38, 3, p. 260-264 5 p.

    Research output: Contribution to journalArticle

  • PDCD10 gene mutations in multiple cerebral cavernous malformations

    Cigoli, M. S. O., Avemaria, F., De Benedetti, S., Gesu, G. P., Accorsi, L. G. I., Parmigiani, S., Corona, M. F. R., Capra, V., Mosca, A., Giovannini, S., Notturno, F., Ciccocioppo, F., Volpi, L., Estienne, M., De Michele, G., Antenora, A., Bilo, L., Tavoni, A., Zamponi, N., Alfei, E. & 3 others, Baranello, G., Riva, D. & Penco, S., 2014, In : PLoS One. 9, 10, p. e110438

    Research output: Contribution to journalArticle