User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 2 results.
    • Journal article
    CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
    Legendre, Marine Rodriguez - Ballesteros, Montserrat Rossi, Massimiliano Abadie, Véronique Amiel, Jeanne Revencu, Nicole[UCL] Blanchet, Patricia Brioude, Frédéric Delrue, Marie-Ange Doubaj, Yassamine Sefiani, Abdelaziz Francannet, Christine Holder-Espinasse, Muriel Jouk, Pierre-Simon Julia, Sophie Melki, Judith Mur, Sébastien Naudion, Sophie Fabre-Teste, Jennifer Busa, Tiffany Stamm, Stephen Lyonnet, Stanislas Attie-Bitach, Tania Kitzis, Alain Gilbert-Dussardier, Brigitte Bilan, Frédéric (2018) European Journal of Human Genetics — Vol. 26, no. 2, p. 287-292 (2018)
    • Journal article
    RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mendola, Antonella[UCL] Cordisco, Maria Rosa Dubois, Josée Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Amor, David J Irvine, Alan D Baselga, Eulalia Dompmartin, Anne Syed, Samira Martin-Santiago, Ana Ades, Lesley Collins, Felicity Smith, Janine Sandaradura, Sarah Barrio, Victoria R Burrows, Patricia E Blei, Francine Cozzolino, Mariarosaria Brunetti-Pierri, Nicola Vicente, Asuncion Abramowicz, Marc Désir, Julie Vilain, Catheline Chung, Wendy K Wilson, Ashley Gardiner, Carol A Dwight, Yim Lord, David J E Fishman, Leona Cytrynbaum, Cheryl Chamlin, Sarah Ghali, Fred Gilaberte, Yolanda Joss, Shelagh Boente, Maria Del C Léauté-Labrèze, Christine Delrue, Marie-Ange Bayliss, Susan Martorell, Loreto González-Enseñat, Maria-Antonia Mazereeuw-Hautier, Juliette O'Donnell, Brid Bessis, Didier Pyeritz, Reed E Salhi, Aicha Tan, Oon T Wargon, Orli Mulliken, John B Vikkula, Miikka[UCL] (2013) Human Mutation — Vol. 34, no.12, p. 1632-1641 (2013)