User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 5 results.
    • Journal article
    Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.
    Battisti, Gladys Wintjens, René Decottignies, Anabelle[UCL] Merhi, Ahmad Fervaille, Caroline[UCL] Sokal, Etienne[UCL] Karadurmus, Deniz Benoit, Valerie Claessens, Anick Martinet, Jean-Paul[UCL] Martiat, Benoît Kinzinger, Philippe Maystadt, Isabelle (2021) European journal of medical genetics — Vol. 64, no. 12, p. 104333 [1-12] (2021)
    • Journal article
    Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
    Ashton, Emma J. Legrand, Anne Benoit, Valerie Roncelin, Isabelle Venisse, Annabelle Zennaro, Maria-Christina Jeunemaitre, Xavier Iancu, Daniela van’t Hoff, William G. Walsh, Stephen B. Godefroid, Nathalie[UCL] Rotthier, Annelies Del Favero, Jurgen Devuyst, Olivier[UCL] Schaefer, Franz Jenkins, Lucy A. Kleta, Robert Dahan, Karin[UCL] Vargas-Poussou, Rosa Bockenhauer, Detlef (2018) Kidney international — Vol. 93, no. 4, p. 961-967 (2018)
    • Journal article
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
    Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G Nassogne, Marie-Cécile[UCL] Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O M Wilson, Louise Yuen, Amy Study, Ddd Low, Karen J Newbury-Ecob, Ruth A (2018) European Journal of Human Genetics — Vol. 26, no. 1, p. 64-74 (2018)
    • Journal article
    Diagnosis of Kabuki syndrome with unreported KMT2D pathogenic variant: contribution of prenatal facial dysmorphology analysis and whole exome sequencing – about a clinical report and review of the literature
    Biard, Jean-Marc[UCL] Englebert, Hélène[UCL] Benoit, Valerie Destree, Anne Carbonez, Karlien[UCL] Ortegat, Matthieu[UCL] Bernard, Pierre[UCL] Sznajer, Yves[UCL] (2023) European gynecology & obstetrics — Vol. 5, no. 3, p. 126-131 (2023)
    • Journal article
    Clinical and Neurophysiologic Phenotypes in Neonates With Encephalopathy.
    Carapancea, Evelina[UCL] Cornet, Marie-Coralie Milh, Mathieu De Cosmo, Lucrezia Huang, Eric J Granata, Tiziana Striano, Pasquale Ceulemans, Berten Stein, Anja Morris-Rosendahl, Deborah Conti, Greta Mitra, Nipa Raymond, F Lucy Rowitch, David H Solazzi, Roberta Vercellino, Fabiana De Liso, Paola D'Onofrio, Gianluca Boniver, Clementina Danhaive, Olivier[UCL] Carkeek, Katherine[UCL] Salpietro, Vincenzo Weckhuysen, Sarah Fedrigo, Marny Angelini, Annalisa Castellotti, Barbara Lederer, Damien Benoit, Valerie Raviglione, Federico Guerrini, Renzo Dilena, Robertino Cilio, Maria-Roberta[UCL] (2023) Neurology — Vol. 100, no.12, p. e1234-e1247 (2023)