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Affichage: 6 résultats.
    • Article de périodique
    FOXP1 -related intellectual disability syndrome: a recognisable entity
    Meerschaut, Ilse Rochefort, Daniel Revencu, Nicole[UCL] Pètre, Justine Corsello, Christina Rouleau, Guy A Hamdan, Fadi F Michaud, Jacques L Morton, Jenny Radley, Jessica Ragge, Nicola García-Miñaúr, Sixto Lapunzina, Pablo Bralo, Maria Palomares Mori, Maria Ángeles Moortgat, Stéphanie Benoit, Valérie Mary, Sandrine Bockaert, Nele Oostra, Ann Vanakker, Olivier Velinov, Milen de Ravel, Thomy JL Mekahli, Djalila Sebat, Jonathan Vaux, Keith K DiDonato, Nataliya Hanson-Kahn, Andrea K Hudgins, Louanne Dallapiccola, Bruno Novelli, Antonio Tarani, Luigi Andrieux, Joris Parker, Michael J Neas, Katherine Ceulemans, Berten Schoonjans, An-Sofie Prchalova, Darina Havlovicova, Marketa Hancarova, Miroslava Budisteanu, Magdalena Dheedene, Annelies Menten, Björn Dion, Patrick A Lederer, Damien Callewaert, Bert (2017) Journal of Medical Genetics — Vol. 54, no.9, p. 613-623 (2017)
    • Article de périodique
    Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
    Vanakker, Olivier Vilain, Catheline Janssens, Katrien Van der Aa, Nathalie Smits, Guillaume Bandelier, Claude[UCL] Blaumeiser, Bettina Bulk, Saskia Caberg, Jean-Hubert De Leener, Anne De Rademaeker, Marjan de Ravel, Thomy Desir, Julie Destree, Anne Dheedene, Annelies Gaillez, Stéphane Grisart, Bernard Hellin, Ann-Cécile Janssens, Sandra Keymolen, Kathelijn Menten, Björn Pichon, Bruno Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, Sonia Staessens, Catherine Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris R. Kooy, Frank Sznajer, Yves[UCL] Devriendt, Koen (2014) European Journal of Medical Genetics — Vol. 57, no. 4, p. 151-156 (2014)
    • Article de périodique
    'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms
    Kollmann, Paul Peeters, André[UCL] Vanakker, Olivier Sznajer, Yves[UCL] (2016) Journal of Neurology : official journal of the European Neurological Society — Vol. 263, no.11, p. 2327-2329 (2016)
    • Article de périodique
    The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
    Muys, Joke Blaumeiser, Bettina Jacquemyn, Yves Bandelier, Claude[UCL] Brison, Nathalie Bulk, Saskia Chiarappa, Patrizia[UCL] Courtens, Winnie De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Destrée, Anne Devriendt, Koenraad Dheedene, Annelies Fieuw, Annelies Fransen, Erik Gatot, Jean-Stéphane Holmgren, Philip Jamar, Mauricette Janssens, Sandra Keymolen, Kathelijn Lederer, Damien Menten, Björn Meuwissen, Marije Parmentier, Benoit Pichon, Bruno Rombout, Sonia Sznajer, Yves[UCL] Van Den Bogaert, Ann Van Den Bogaert, Kris Vanakker, Olivier Vermeesch, Joris Janssens, Katrien (2018) Prenatal diagnosis — Vol. 38, no.13, p. 1120-1128 (2018)
    • Article de périodique
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Article de périodique
    A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy).
    Descamps, Olivier[UCL] Van Caenegem, Olivier[UCL] Hermans, Michel[UCL] Balligand, Jean-Luc[UCL] Beauloye, Christophe[UCL] Bondue, Antoine Carlier, Stéphane Castermans, Emilie Chenot, Fabien Claeys, Marc De Block, Christophe De Leener, Anne[UCL] De Meester, Antoine Demeure, Fabian[UCL] De Raedt, Herbert Desmet, Walter Elegeert, Ivan Guillaume, Michel Hoffer, Etienne Kacenelenbogen, Raymond Lancellotti, Patrizio Langlois, Michel Leone, Attilio Mertens, Ann Paquot, Nicolas Vanakker, Olivier Vanoverschelde, Jean-Louis[UCL] Verhaegen, Ann Vermeersch, Pieter Wallemacq, Caroline Rietzschel, Ernst (2018) Atherosclerosis — Vol. 277, p. 369-376 (2018)