• 6949 Citations
  • 43 Scopus h-Index
1992 …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 Eva Morava-Kozicz is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles

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

Research Output

  • Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

    Witters, P., Tahata, S., Barone, R., Õunap, K., Salvarinova, R., Grønborg, S., Hoganson, G., Scaglia, F., Lewis, A. M., Mori, M., Sykut-Cegielska, J., Edmondson, A., He, M. & Morava, E., Jun 1 2020, In : Genetics in Medicine. 22, 6, p. 1102-1107 6 p.

    Research output: Contribution to journalArticle

  • Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Čechová, A., Altassan, R., Borgel, D., Bruneel, A., Correia, J., Girard, M., Harroche, A., Kiec-Wilk, B., Mohnike, K., Pascreau, T., Pawliński, Ł., Radenkovic, S., Vuillaumier-Barrot, S., Aldamiz-Echevarria, L., Couce, M. L., Martins, E. G., Quelhas, D., Morava, E., de Lonlay, P., Witters, P. & 1 others, Honzík, T., Jan 1 2020, (Accepted/In press) In : Journal of inherited metabolic disease.

    Research output: Contribution to journalReview article

  • Defining a new immune deficiency syndrome: MAN2B2-CDG

    Verheijen, J., Wong, S. Y., Rowe, J. H., Raymond, K., Stoddard, J., Delmonte, O. M., Bosticardo, M., Dobbs, K., Niemela, J., Calzoni, E., Pai, S. Y., Choi, U., Yamazaki, Y., Comeau, A. M., Janssen, E., Henderson, L., Hazen, M., Berry, G., Rosenzweig, S. D., Aldhekri, H. H. & 3 others, He, M., Notarangelo, L. D. & Morava, E., Mar 2020, In : Journal of Allergy and Clinical Immunology. 145, 3, p. 1008-1011 4 p.

    Research output: Contribution to journalArticle

    Open Access
    1 Scopus citations

    Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in micu1

    Wilton, K. M., Morales-Rosado, J. A., Selcen, D., Muthusamy, K., Ewing, S., Agre, K., Nickels, K., Klee, E. W., Ho, M. L. & Morava, E., Jan 1 2020, In : JIMD Reports. 53, 1, p. 2-28 27 p.

    Research output: Contribution to journalArticle

    Open Access