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Displaying 17 results.
    • BookChapter
    Capillary malformation/arteriovenous malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2020) Emery and Rimoin’s Principles and Practice in Medical Genetics — [ISBN : 9780128125366]
    • Speech
    The Belgian MicroArray Prenatal (BEMAPRE) database [Online Abstract]
    Muys,, J. Janssens, K. Vanakker, O. Vilain, C. Smits, G. Bandelier, Claude[UCL] Bulk, S. Caberg, J. De Leener, A. De Rademaeker, M. de Ravel de l'Argentière, T. Desir, J. Destree, A. Dheedene, A. Gaillez, S. Grisart, B. Hellin, A. Janssens, S. Keymolen, K. Menten, B. Pichon, B. Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, S. Staessens, C. Van Den Bogaert, A. Van Den Bogaert, K. Vermeesch, J. Sznajer, Yves[UCL] Blaumeiser, B. Jacquemyn, Y. Devriendt, K. (2015) European Human Genetics Conference 2015 — (Scotland) Glasgow
    • BookChapter
    Arteriovenous malformation in mice and men
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2008) Tumor angiogenesis — [ISBN : 978-3-540-33176-6]
    • BookChapter
    RASA1 and capillary malformation-arteriovenous malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B. Vikkula, Miikka[UCL] (2008) Inborn errors of development — [ISBN : 978-0-19-530691-0]
    • Dissertation
    RASA1-related phenotypes and possible pathophysiological mechanism
    Revencu, Nicole[UCL] (2012)
    • Speech
    Phenotype and differential diagnosis of a neonatal Marfan syndrome due to a new FBN-1 exon 25 mutation
    Revencu, Nicole[UCL] Verellen, Gaston[UCL] Quenum, G Thim, VVS Collard, L De Paepe, A. Dumoulin, Christine[UCL] (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG (France)
    • Speech
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
    Revencu, Nicole[UCL] (2018) ISSVA meeting — Amsterdam
    • Speech
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
    Revencu, Nicole[UCL] (2018) European Human Genetics Conference — Milan
    • Speech
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
    Revencu, Nicole[UCL] (2018) Manchester dysmorphology conference — Manchester
    • Speech
    PP03.5 – 2756: Multiple symmetrical lipomatosis: An uncommon presentation of a mitochondrial disease
    Van Coster, R. Smet, J. Vanlander, A.V. Lengelé, Benoît[UCL] Seneca, S. Revencu, Nicole[UCL] (2015) 11th European Paediatric Neurology Society Congress 2015 — (Austria) Vienna
    • BookChapter
    Disorders affecting cutaneous vasculature
    Dompmartin, Anne Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2016) Rook's Textbook of Dermatology, 9th edition — [ISBN : 9781118441190]
    • Speech
    Retargeting of Bile Salt Export Pump (BSEP) and criteria of favourable outcome in children with Progressive Familial Intrahepatic Cholestasis type II (PFIC-II)
    Varma, Sharat[UCL] Revencu, Nicole[UCL] Stéphenne, Xavier[UCL] Scheers, Isabelle[UCL] Smets, Françoise[UCL] Beleza-Meireles, A[UCL] Reding, Raymond[UCL] Roskams, Tania Sokal, Etienne[UCL] (2015) Belgian Week of Gastroenterology — Square Meeting Center Brussels
    • Speech
    RETARGETING OF BILE SALT EXPORT PUMP (BSEP) AND CRITERIA OF FAVOURABLE OUTCOME IN CHILDREN WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE II (PFIC-II)
    Varma, Sharat[UCL] Revencu, Nicole[UCL] Stéphenne, Xavier[UCL] Scheers, Isabelle[UCL] Smets, Françoise[UCL] Beleza-Meireles, A[UCL] Reding, Raymond[UCL] Roskams, Tania Sokal, Etienne[UCL] (2015) 48th Annual Meeting of ESPGHAN (European Society for Paediatric Gastroenterology Hepatology and Nutrition) — Amsterdam, Pays-Bas
    • BookChapter
    Capillary malformation-arteriovenous malformation and RASA1 mutations
    Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Vikkula, Miikka[UCL] (2011) eLS —
    • BookChapter
    RASA1 and capillary malformation-arteriovenous malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B. Vikkula, Miikka[UCL] (2016) Epstein's Inborn errors of development. The Molecular Basis of Clinical Disorders of Morphogenesis. — [ISBN : 0199934525]
    • BookChapter
    Cerebral cavernous malformation
    Revencu, Nicole[UCL] Vikkula, Miikka[UCL] (2009) Encyclopedia of molecular mechanism of disease — [ISBN : 978-3-540-33445-3]
    • BookChapter
    Capillary Malformation/Arteriovenous Malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2013) Principles and Practice in Medical Genetics — [ISBN : 978-0-12-383834-6]