Articles dans des revues avec comité de lecture (148)
  1. 106. 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
  2. 107. 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.
  3. 108. 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.
  4. 109. 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
  5. 110. 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.
  6. 111. 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
  7. 112. 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.
  8. 113. Abramowicz, M., Vassart, G., & Refetoff, S. (1997). Probing the cause of thyroid dysgenesis. Thyroid, 7(3), 325-326.
  9. 114. 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
  10. 115. 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
  11. 116. De Witte, O., Noterman, J., Oulad Ben Taib, N., Abramowicz, M., Balériaux, D., Vandesteene, A., & Brotchi, J. (1997). Anévrismes multiples et "de novo" dans le syndrome d'Ehlers-Danlos. Neuro-chirurgie, 43(4), 250-254.
  12. 117. Heinrichs, C., Parma, J., Duprez, L., Bourdoux, P., Ziereisen, F., Bergmann, P., Vassart, G., & Abramowicz, M. (1997). Familial congenital hypothyroidism due to an inactivating mutation in the TSH receptor gene causing profound hypoplasia of the thyroid gland. Hormone research, 48(2), 164.
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