Articles dans des revues avec comité de lecture (150)
  1. 94. Abramowicz, M., Albuquerque, J. P., & Zanen, A. (2002). Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. Journal of medical genetics, 39(2), 110-112.
  2. 95. Vassart, G., Abramowicz, M., Cochaux, P., Duprez, L., El Housni, H., Hayez, F., Heimann, P., Parma, J., Vamos, E., & Van Regemorter, N. (2002). Le Service de Génétique Médicale. Revue médicale de Bruxelles, 23 Suppl 2, 63-67.
  3. 96. Albuquerque, J. P., Vassart, G., Lavinha, J., & Abramowicz, M. (2001). Chimeraplasty validation. Nature biotechnology, 19(11), 1011. doi:10.1038/nbt1101-1011a
  4. 97. Blocklet, D., Abramowicz, M., & Schoutens, A. (2001). Bone, bone marrow, and MIBI scintigraphic findings in Gaucher's disease "bone crisis". Clinical nuclear medicine, 26(9), 765-769. doi:10.1097/00003072-200109000-00005
  5. 98. Abramowicz, M. (2001). Aspects genetiques du cancer colorectal. Revue médicale de Bruxelles, 22(4), A199-A202.
  6. 99. Abramowicz, M. (2001). Place et role du conseil genetique. Revue médicale de Bruxelles, 22(4), A241-A243.
  7. 100. Demeester, R., Parma, J., Cochaux, P., Vassart, G., & Abramowicz, M. (2001). A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years. Human mutation, 17(4), 354. doi:10.1002/humu.42
  8. 101. Lüdecke, H. J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum D, D., Hirche, H., Abramowicz, M., Albrecht, B., Apacik, C., Christen, H. J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T. H., Greiwe, M., Hamm, H., Hennekam, R. C., Hinkel, G. K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A. T., Moog, U., Nagai, T., Niikawa, N., Orstavik, K. H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjaerg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., & Horsthemke, B. (2001). Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. American journal of human genetics, 68(1), 81-91. doi:10.1086/316926
  9. 102. Vilain, C., Rydlewski, C., Duprez, L., Heinrichs, C., Abramowicz, M., Malvaux, P., Renneboog, B., Parma, J., Costagliola, S., & Vassart, G. (2001). Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. The Journal of clinical endocrinology and metabolism, 86(1), 234-238. doi:10.1210/jc.86.1.234
  10. 103. Jamieson, C. R., Fryns, J. P., Jacobs, J., Matthijs, G., & Abramowicz, M. (2000). Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. American journal of human genetics, 67(6), 1575-1577. doi:10.1086/316909
  11. 104. Emiliani, S., Merino, E. G., Van Den Bergh, M. J., Abramowicz, M., Vassart, G., Englert, Y., & Delneste, D. (2000). Re-analysis by fluorescence in situ hybridisation of spare embryos cultured until Day 5 after preimplantation genetic diagnosis for a 47, XYY infertile patient demonstrates a high incidence of diploid mosaic embryos: a case report. Prenatal diagnosis, 20(13), 1063-1066. doi:10.1002/1097-0223(200012)20:13<1063::AID-PD982>3.0.CO;2-F
  12. 105. Abramowicz, M., Dessars, B., Sevens, C., Goossens, M., & Girodon-Boulandet, E. (2000). Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele. Journal of medical genetics, 37(8), E15.
    13. << Précédent 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 Suivant >>