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De Paepe Alexandra

Main Referenced Co-authors
Baldridge, D. (1)
Beighton, P. (1)
Bonafe, L. (1)
Courtens, W. (1)
D'haene, B. (1)
Main Referenced Keywords
Adolescent (1); Blepharophimosis/genetics (1); Child, Preschool (1); DNA Copy Number Variations/genetics (1); Female (1);
Main Referenced Disciplines
Genetics & genetic processes (2)

Publications (total 2)

The most downloaded
3 downloads
Kelley, B. P., Malfait, F., Bonafe, L., Baldridge, D., Homan, E., Symoens, S., Willaert, A., Elcioglu, N., Van Maldergem, L., Verellen-Dumoulin, C., Gillerot, Y., Napierala, D., Krakow, D., Beighton, P., Superti-Furga, A., De Paepe, A., & Lee, B. (2011). Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome. Journal of Bone and Mineral Research. doi:10.1002/jbmr.250 https://hdl.handle.net/2268/82732

The most cited

149 citations (Scopus®)

Kelley, B. P., Malfait, F., Bonafe, L., Baldridge, D., Homan, E., Symoens, S., Willaert, A., Elcioglu, N., Van Maldergem, L., Verellen-Dumoulin, C., Gillerot, Y., Napierala, D., Krakow, D., Beighton, P., Superti-Furga, A., De Paepe, A., & Lee, B. (2011). Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome. Journal of Bone and Mineral Research. doi:10.1002/jbmr.250 https://hdl.handle.net/2268/82732

Kelley, B. P., Malfait, F., Bonafe, L., Baldridge, D., Homan, E., Symoens, S., Willaert, A., Elcioglu, N., Van Maldergem, L., Verellen-Dumoulin, C., Gillerot, Y., Napierala, D., Krakow, D., Beighton, P., Superti-Furga, A., De Paepe, A., & Lee, B. (2011). Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome. Journal of Bone and Mineral Research. doi:10.1002/jbmr.250
Peer Reviewed verified by ORBi

D'haene, B., Nevado, J., Pugeat, M., Pierquin, G., Lowry, R. B., Reardon, W., Delicado, A., Garcia-Minaur, S., Palomares, M., Courtens, W., Stefanova, M., Wallace, S., Watkins, W., Shelling, A. N., Wieczorek, D., Veitia, R. A., De Paepe, A., Lapunzina, P., & De Baere, E. (2010). FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. Human Mutation, 31 (5), 1332-47. doi:10.1002/humu.21233
Peer Reviewed verified by ORBi

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