Articles dans des revues avec comité de lecture (150)
  1. 106. 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
  2. 107. 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.
  3. 108. Vilain, C., Sznajer, Y., Rypens, F., Désir, D., & Abramowicz, M. (1999). Sporadic case of trichorhinophalangeal syndrome type III in a European patient. American journal of medical genetics, 85(5), 495-497. doi:10.1002/(SICI)1096-8628(19990827)85:5<495::AID-AJMG12>3.0.CO;2-K
  4. 109. Duprez, L., Parma, J., Van Sande, J., Rodien, P., Sabine, C., Abramowicz, M., Dumont, J. E., & Vassart, G. (1999). Pathology of the TSH receptor. Journal of pediatric endocrinology & metabolism, 12 Suppl 1, 295-302.
  5. 110. Poncin, J., Abs, R., Velkeniers, B., Bonduelle, M., Abramowicz, M., Legros, J. J., Verloes, A., Meurisse, M., Van Gaal, L., Verellen, C., Koulischer, L., & Beckers, A. (1999). Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. Human mutation, 13(1), 54-60. doi:10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K
  6. 111. Messiaen, L. M., Callens, T., Roux, K. J., Mortier, G., De Paepe, A., Abramowicz, M., Pericak-Vance, M. A., Vance, J. M., & Wallace, M. R. (1999). Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genetics in medicine, 1(6), 248-253.
  7. 112. Ferreiro, C., Klepper, J., Ranguelov, N., Dan, B., Abramowicz, M., Vamos, E., Voit, T., & Goyens, P. (1999). Isolated hypoglycorrhachia in a female newborn: an additional case of GLUT-1 deficiency. Journal of inherited metabolic disease, 22(1), 129.
  8. 113. Wetzburger, C., Van Regemorter, N., Szliwowski, H., Abramowicz, M., & Van Bogaert, P. (1998). Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy. Pediatric neurology, 19(5), 392-394. doi:10.1016/S0887-8994(98)00085-X
  9. 114. Duprez, L., Parma, J., Van Sande, J., Rodien, P., Dumont, J. E., Vassart, G., & Abramowicz, M. (1998). TSH receptor mutations and thyroid disease. Trends in endocrinology and metabolism, 9, 133-140.
  10. 115. Abramowicz, M., Duprez, L., Parma, J., Vassart, G., & Heinrichs, C. (1997). Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. The Journal of clinical investigation, 99(12), 3018-3024. doi:10.1172/JCI119497
  11. 116. Abramowicz, M., Vassart, G., & Refetoff, S. (1997). Probing the cause of thyroid dysgenesis. Thyroid, 7(3), 325-326.
  12. 117. Seri, M., Yin, L., Barone, V., Bolino, A., Celli, I., Bocciardi, R., Pasini, B., Ceccherini, I., Lerone, M., Kristoffersson, U., Larsson, L. T., Casasa, J. M., Cass, D. T., Abramowicz, M., Vanderwinden, J.-M., Kravcenkiene, I., Baric, I., Silengo, M., Martucciello, G., & Romeo, G. (1997). Frequency of RET mutations in long- and short-segment Hirschsprung disease. Human mutation, 9(3), 243-249. doi:10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8
    13. << Précédent 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 Suivant >>