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Displaying 6 results.
    • Journal article
    Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
    Urquhart, Jill Roberts, Rebecca de Silva, Deepthi Shalev, Stavit Chervinsky, Elena Nampoothiri, Sheela Sznajer, Yves[UCL] Revencu, Nicole Gunasekera, Romesh Suri, Mohnish Ellingford, Jamie Williams, Simon Bhaskar, Sanjeev Clayton-Smith, Jill (2016) American journal of medical genetics. Part A — Vol. 170A, no.5, p. 1216-24 (2016)
    • Journal article
    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
    Briggs, Tracy A. Rice, Gillian I. Adib, Navid Ades, Lesley Barete, Stephane Baskar, Kannan Baudouin, Veronique Cebeci, Ayse N. Clapuyt, Philippe[UCL] Coman, David De Somer, Lien Finezilber, Yael Frydman, Moshe Guven, Ayla Heritier, Sébastien Karall, Daniela Kulkarni, Muralidhar L. Lebon, Pierre Levitt, David Le Merrer, Martine Linglart, Agnes Livingston, John H. Navarro, Vincent Okenfuss, Ericka Puel, Anne Revencu, Nicole[UCL] Scholl-Bürgi, Sabine Vivarelli, Marina Wouters, Carine Bader-Meunier, Brigitte Crow, Yanick J. (2016) Journal of Clinical Immunology — Vol. 36, no. 3, p. 220-234 (2016)
    • Journal article
    Homozygous familial hypercholesterolemia in childhood: genotype-phenotype description, established therapies and perspectives
    Sanna, Claudia[UCL] Stéphenne, Xavier[UCL] Revencu, Nicole[UCL] Smets, Françoise[UCL] Sassolas, Agnes Di Filippo, Mathilde Descamps, Olivier S. Sokal, Etienne[UCL] (2016) Atherosclerosis — Vol. 247, p. 97-104 (2016)
    • 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]
    • Journal article
    Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
    Briggs, Tracy A Rice, Gillian I Adib, Navid Ades, Lesley Barete, Stephane Baskar, Kannan Baudouin, Veronique Cebeci, Ayse N Clapuyt, Philippe[UCL] Coman, David De Somer, Lien Finezilber, Yael Frydman, Moshe Guven, Ayla Heritier, Sébastien Karall, Daniela Kulkarni, Muralidhar L Lebon, Pierre Levitt, David Le Merrer, Martine Linglart, Agnes Livingston, John H Navarro, Vincent Okenfuss, Ericka Puel, Anne Revencu, Nicole[UCL] Scholl-Bürgi, Sabine Vivarelli, Marina Wouters, Carine Bader-Meunier, Brigitte Crow, Yanick J (2016) Journal of Clinical Immunology — Vol. 36, no. 5, p. 529-530 (2016)
    • 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]