User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 3 results.
    • Journal article
    Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
    Abdelfattah, Fatima Kariminejad, Ariana Kahlert, Anne-Karin Morrison, Patrick J Gumus, Evren Mathews, Katherine D Darbro, Benjamin W Amor, David J Walsh, Maie Sznajer, Yves[UCL] Weiß, Luisa Weidensee, Sabine Chitayat, David Shannon, Patrick Bermejo-Sánchez, Eva Riaño-Galán, Isolina Hayes, Ian Poke, Gemma Rooryck, Caroline Pennamen, Perrine Khung-Savatovsky, Suonavy Toutain, Annick Vuillaume, Marie-Laure Ghaderi-Sohi, Siavash Kariminejad, Mohamad H Weinert, Sönke Sticht, Heinrich Zenker, Martin Schanze, Denny (2020) Human mutation — Vol. 41, no.9, p. 1615-1628 (2020)
    • Journal article
    New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
    Navarro, Claire Laure Esteves-Vieira, Vera Courrier, Sébastien Boyer, Amandine Duong Nguyen, Thuy Huong, Le Thi Thanh Meinke, Peter Schröder, Winnie Cormier-Daire, Valérie Sznajer, Yves[UCL] Amor, David J Lagerstedt, Kristina Biervliet, Martine Van Den Akker, Peter C Cau, Pierre Roll, Patrice Lévy, Nicolas Badens, Catherine Wehnert, Manfred De Sandre-Giovannoli, Annachiara (2014) European Journal of Human Genetics — Vol. 22, no. 8, p. 1002-1011 (2014)
    • 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)