User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 2 results.
    • Journal article
    Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
    Laurent, Michaël R. De Schepper, Jean Trouet, Dominique Godefroid, Nathalie[UCL] Boros, Emese Heinrichs, Claudine Bravenboer, Bert Velkeniers, Brigitte Lammens, Johan Harvengt, Pol Cavalier, Etienne Kaux, Jean-François Lombet, Jacques De Waele, Kathleen Verroken, Charlotte van Hoeck, Koenraad Mortier, Geert R. Levtchenko, Elena Vande Walle, Johan (2021) Frontiers in endocrinology — Vol. 12, p. 641543 [1-20] (2021)
    • Journal article
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
    Kaiser, Frank J. Ansari, Morad Braunholz, Diana Gil-Rodríguez, María Concepción Decroos, Christophe Wilde, Jonathan J. Fincher, Christopher T. Kaur, Maninder Bando, Masashige Amor, David J. Atwal, P.S. Bahlo, Melanie Bowman, Christine M. Bradley, Jacquelyn J. Brunner, Han G. Clark, Dinah Campo, Miguel Del Di Donato, Nataliya Diakumis, Peter Dubbs, Holly Dyment, David A. Eckhold, Juliane Ernst, Sarah Ferreira, Jose C. Francey, Lauren J. Gehlken, Ulrike Guillén-Navarro, Encarna Gyftodimou, Yolanda Hall, Bryan D. Hennekam, Raoul Hudgins, Louanne Hullings, Melanie Hunter, Jennifer M. Yntema, Helger Innes, A. Micheil Kline, Antonie D. Krumina, Zita Lee, Hane Leppig, Kathleen Lynch, Sally Ann Mallozzi, Mark B. Mannini, Linda Mckee, Shane Mehta, Sarju G. Micule, Ieva Consortium, Care Rare Canada Mohammed, Shehla Moran, Ellen Mortier, Geert R. Moser, Joe-Ann S. Noon, Sarah E. Nozaki, Naohito Nunes, Luis Pappas, John G. Penney, Lynette S. Pérez-Aytés, Antonio Petersen, Michael B. Puisac, Beatriz Revencu, Nicole[UCL] Roeder, Elizabeth Saitta, Sulagna Scheuerle, Angela E. Schindeler, Karen L. Siu, Victoria M. Stark, Zornitza Strom, Samuel P. Thiese, Heidi Vater, Inga Willems, P. Williamson, Kathleen Wilson, Louise C. Hakonarson, Hakon Quintero-Rivera, Fabiola Wierzba, Jolanta Musio, Antonio Gillessen-Kaesbach, Gabriele Ramos, Feliciano J. Jackson, Laird G. Shirahige, Katsuhiko Pié, Juan Christianson, David W. Krantz, Ian D. Fitzpatrick, David R. Deardorff, Matthew A. (2014) Human Molecular Genetics — Vol. 23, no. 11, p. 2888-2900 (2014)