Articles dans des revues avec comité de lecture (148)

  1. 94. Albuquerque, J. P., Vassart, G., Lavinha, J., & Abramowicz, M. (2001). Chimeraplasty validation. Nature biotechnology, 19(11), 1011. doi:10.1038/nbt1101-1011a
  2. 95. 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
  3. 96. Abramowicz, M. (2001). Aspects genetiques du cancer colorectal. Revue médicale de Bruxelles, 22(4), A199-A202.
  4. 97. Abramowicz, M. (2001). Place et role du conseil genetique. Revue médicale de Bruxelles, 22(4), A241-A243.
  5. 98. 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
  6. 99. 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
  7. 100. 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
  8. 101. 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
  9. 102. 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
  10. 103. 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.
  11. 104. Goyens, P., Ranguelov, N., Ferreiro, C., Klepper, J., Abramowicz, M., Vamos, E., Robert, M., Brasseur, D., & Dan, B. (1999). Pitfall of ketogenic diet in neonatal De Vivo disease (GLUT-1 deficiency). European journal of paediatric neurology, 3(6), A91-A92.
  12. 105. Jamieson, C. R., Govaerts, C., & Abramowicz, M. (1999). Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. American journal of human genetics, 65(5), 1465-1469. doi:10.1086/302640

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