Parties d'ouvrages collectifs (2)
  1. 1. Delbaere, A., Montanelli, L., Smits, G., Costagliola, S., & Vassart, G. (2006). Genetic aspects of OHSS. In J. Gerris, F. Olivennes, & A. Delvigne (Eds.), Ovarian Hyperstimulation Syndrome (pp. 121-130). Taylor & Francis.(Taylor and Francis Medical Books).
  2. 2. Vassart, G., Bonomi, M., Claeysen, S., Govaerts, C., Ho, S. C., Pardo, L., Smits, G., Vlaeminck-Guillem, V., & Costagliola, S. (2003). Glycoprotein Hormone Receptors: A Unique Paradigm for Ligand Binding and GPCR Activation. In Handbook of Cell Signaling (pp. 161-166). Elsevier Inc. doi:10.1016/B978-012124546-7/50387-9
    3.   Articles dans des revues avec comité de lecture (52)
  3. 1. Segers, K., Benoit, F., Levy, S., Martinet, V., Schulz, J., Bertrand, F., De Bourgoing, G., Tatillo, C., Praet, J.-P., Vandernoot, I., Desmyter, L., Peyrassol, X., Kehagias, P., Smits, G., Dumoulin, B., Besse-Hammer, T., Dachy, B., & Surquin, M. (2024). G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors. Alzheimer disease and associated disorders, 38(4), 328-331. doi:10.1097/WAD.0000000000000643
  4. 2. Baptista Freitas, M., Desmyter, L., Badoer, C., Smits, G., Vandernoot, I., & T’Kint De Roodenbeke, D. (2024). POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program. European journal of human genetics, 32(8), 980-986. doi:10.1038/s41431-024-01611-0
  5. 3. Gravel, B., Renaux, A., Papadimitriou, S., Smits, G., Nowe, A., & Lenaerts, T. (2024). Prioritization of oligogenic variant combinations in whole exomes. Bioinformatics, 40(4), btae184. doi:10.1093/bioinformatics/btae184
  6. 4. Guillaume, A., Stejskal, V., Smits, G., & Kelen, D. (2024). A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report. Frontiers in Pediatrics, 12, 1303772. doi:10.3389/fped.2024.1303772
  7. 5. Giuili, E., Grolaux, R., Macedo, C. Z. N. M. C., Desmyter, L., Pichon, B., Neuens, S., Vilain, C., Olsen, C., Van Dooren, S., Smits, G., & Defrance, M. (2023). Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs). Human genetics. doi:10.1007/s00439-023-02609-2
  8. 6. Massart, A., Danger, R., Olsen, C., Emond, M., Viklicky, O., Jacquemin, V., Soblet, J., Duerinckx, S., Croes, D., Perazzolo, C., Hruba, P., Daneels, D., Caljon, B., Sever, M. S., Pascual, J., Miglinas, M., Pirson, I., Ghisdal, L., Smits, G., Giral, M., Abramowicz, D., Abramowicz, M., & Brouard, S. (2023). An exome-wide study of renal operational tolerance. Frontiers in medicine, 9. doi:10.3389/fmed.2022.976248
  9. 7. Chomette, L., Hupkens, E., Romitti, M., Dewachter, L., Vachiery, J.-L., Bailly, S., Costagliola, S., Smits, G., Tillet, E., & Bondue, A. (2023). Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity. American journal of medical genetics. Part A. doi:10.1002/ajmg.a.63236
  10. 8. Papadimitriou, S., Gravel, B., Nachtegael, C., De Baere, E., Loeys, B., Vikkula, M., Smits, G., & Lenaerts, T. (2023). Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases. Human Genetics and Genomics Advances, 4(1), 100165. doi:10.1016/j.xhgg.2022.100165
  11. 9. Grolaux, R., Hardy, A., Olsen, C., Van Dooren, S., Smits, G., & Defrance, M. (2022). Identification of differentially methylated regions in rare diseases from a single-patient perspective. Clinical Epigenetics, 14(1). doi:10.1186/s13148-022-01403-7
  12. 10. Nachtegael, C., Gravel, B., Dillen, A., Smits, G., Nowe, A., Papadimitriou, S., & Lenaerts, T. (2022). Scaling up oligogenic diseases research with OLIDA: The Oligogenic Diseases Database. Database, 2022, baac023. doi:10.1093/database/baac023
    13. << Précédent 1 2 3 4 5 6 7 8 9 Suivant >>