Articles dans des revues avec comité de lecture (148)
  1. 10. Jacquemin, V., Antoine, M., Duerinckx, S., Massart, A., Désir, J., Perazzolo, C., Cassart, M., Thomas, D., Segers, V., Lecomte, S., Abramowicz, M., & Pirson, I. (2020). TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly. Human molecular genetics. doi:10.1093/hmg/ddaa245
  2. 11. Duerinckx, S., Jacquemin, V., Drunat, S., Vial, Y., Passemard, S., Perazzolo, C., Massart, A., Soblet, J., Racapé, J., Desmyter, L., Badoer, C., Papadimitriou, S., Le Borgne, Y.-A., Lefort, A., Libert, F., De Maertelaer, V., Rooman, M., Costagliola, S., Verloes, A., Lenaerts, T., Pirson, I., & Abramowicz, M. (2020). Digenic inheritance of human primary microcephaly delineates centrosomal and non centrosomal pathways. Human mutation, 41(2), 512-524. doi:10.1002/humu.23948
  3. 12. Spilleboudt, C., De Wilde, V., Lewalle, P., Cabanne, L., Leclerc, M., Beckerich, F., Bories, D., Cardoso, S., Soares, M. P., Vokaer, B., Hougardy, J.-M., Flamand, V., Racapé, J., Abramowicz, M., Maury, S., & Le Moine, A. (2020). Donor-Derived Myeloid Heme Oxygenase-1 Controls the Development of Graft-Versus-Host Disease. Frontiers in immunology, 11, 579151. doi:10.3389/fimmu.2020.579151
  4. 13. Polla, D. L., Rahikkala, E., Bode, M. M., Määttä, T., Varilo, T., Loman, T., Philips, A. A., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. A., Kuismin, O., van Bokhoven, H., & Järvelä, I. (2019). Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. European journal of human genetics. doi:10.1038/s41431-019-0383-8
  5. 14. Amininejad, L., Charloteaux, B., Theatre, E., Liefferinckx, C., Dmitrieva, J., Hayard, P., Muls, V., Maisin, J. M. G., Schapira, M., Ghislain, J. M., Closset, P., Talib, E. M., Abramowicz, M., Momozawa, Y., Deffontaine, V., Crins, F., Mni, M., Karim, L., Cambisano, N., Ornemese, S., Zucchi, A., Minsart, C., Devière, J., Hugot, J.-P., De Vos, M., Louis, E., Vermeire, S., Van Gossum, A., Coppieters, W., Twizere, J.-C., Georges, M., & Franchimont, D. (2018). Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease. Gastroenterology, 154(8), 2165-2177. doi:10.1053/j.gastro.2018.02.028
  6. 15. Duerinckx, S., Meuwissen, M. E. C., Perazzolo, C., Desmyter, L., Pirson, I., & Abramowicz, M. (2018). Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Molecular genetics & genomic medicine. doi:10.1002/mgg3.400
  7. 16. Létard, P., Duerinckx, S., Désir, J., Abramowicz, M., et al. (2018). Autosomal recessive primary microcephaly due to ASPM mutations: An update. Human mutation, 39(3), 319-332. doi:10.1002/humu.23381
  8. 17. Remiche, G., Lukacs, Z., Kasper, D. D., Abramowicz, M., & Pandolfo, M. (2018). Low prevalence estimates of late-onset glycogen storage disease type II in French-speaking Belgium are not due to missed diagnoses. Journal of clinical neuromuscular disease, 5(4), 471-480. doi:10.3233/JND-180336
  9. 18. Patel, K. A., Kettunen, J., Laakso, M., Stancakova, A., Laver, T. T., Colclough, K., Johnson, M. B., Abramowicz, M., Groop, L., Miettinen, P. P., Shepherd, M. H., Flanagan, S. E., Ellard, S., Inagaki, N., Hattersley, A. T., Tuomi, T., Cnop, M., & Weedon, M. N. (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nature communications, 8(1), 888. doi:10.1038/s41467-017-00895-9
  10. 19. Duerinckx, S., & Abramowicz, M. (2017). The genetics of congenitally small brains. Seminars in cell & developmental biology. doi:10.1016/j.semcdb.2017.09.015
  11. 20. Massart, A., Ghisdal, L., Abramowicz, M., & Abramowicz, D. (2017). Operational tolerance in kidney transplantation and associated biomarkers. Clinical and experimental immunology, 189(2), 138-157. doi:10.1111/cei.12981
  12. 21. Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., & Smits, G. (2017). Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome medicine, 9(1), 67. doi:10.1186/s13073-017-0452-y
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