Menu utilisateur

Accès à distance ? S'identifier sur le proxy UCLouvain

Rechercher

Affichage: 8 résultats.
    • 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
    Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
    Dheedene, Annelies Sante, Tom De Smet, Matthias Vanbellinghen, Jean-François[UCL] Grisart, Bernard Vergult, Sarah Janssens, Sandra Menten, Björn (2016) Prenatal Diagnosis — Vol. 36, no.8, p. 699-707 (2016)
    • Article de périodique
    Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
    van Riel, Margot Brison, Nathalie Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bulk, Saskia De Leener, Anne[UCL] Désir, Julie Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle[UCL] Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Sandra Khudashvili, Naïri Lannoo, Lore Marichal, Axel Meunier, Colombine Palmeira, Leonor Parijs, Ilse Pichon, Bruno Roets, Ellen Sammels, Eva Smits, Guillaume Suenaert, Marion Sznajer, Yves[UCL] Van den Bogaert, Kris Vancoillie, Leen Vandeputte, Lotte Vantroys, Elise Vermeesch, Joris Robert Janssens, Katrien (2021) Obstetrics and gynecology — Vol. 137, no. 6, p. 1102-1108 (2021)
    • 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
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
    Van Den Bogaert, Kris Lannoo, Lore Brison, Nathalie Gatinois, Vincent Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bours, Vincent De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Dheedene, Annelies Duquenne, Armelle[UCL] Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Katrien Janssens, Sandra Lederer, Damien Marichal, Axel Menten, Björn Meunier, Colombine Palmeira, Leonor Pichon, Bruno Sammels, Eva Smits, Guillaume Sznajer, Yves Vantroys, Elise Devriendt, Koenraad Vermeesch, Joris Robert (2021) Genetics in medicine — Vol. 23, no.6, p. 1137-1142 (2021)
    • 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
    Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
    Muys, Joke Jacquemyn, Yves Blaumeiser, Bettina Bourlard, Laura Brison, Nathalie Bulk, Saskia Chiarappa, Patrizia[UCL] De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Destrée, Anne Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle Fieuw, Annelies Fransen, Erik Gatot, Jean-Stéphane Jamar, Mauricette Janssens, Sandra Kerstjens, Jorien Keymolen, Kathelijn Lederer, Damien Menten, Björn Pichon, Bruno Rombout, Sonia Sznajer, Yves Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris Janssens, Katrien (2020) Prenatal diagnosis — Vol. 40, no.10, p. 1272-1283 (2020)
    • Article de périodique
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
    Pérez Baca, María Del Rocío Jacobs, Eva Z Vantomme, Lies Leblanc, Pontus Bogaert, Elke Dheedene, Annelies De Cock, Laurenz Haghshenas, Sadegheh Foroutan, Aidin Levy, Michael A Kerkhof, Jennifer McConkey, Haley Chen, Chun-An Batzir, Nurit Assia Wang, Xia Palomares, María Carels, Marieke ZFHX3 consortium Dermaut, Bart Sadikovic, Bekim Menten, Björn Yuan, Bo Vergult, Sarah Callewaert, Bert Lysy, Philippe[UCL] (2024) American journal of human genetics — Vol. 111, no.3, p. 509-528 (2024)