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Affichage: 4 résultats.
    • Article de périodique
    Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
    Palmer, Elizabeth E Pusch, Michael Picollo, Alessandra Forwood, Caitlin Nguyen, Matthew H Suckow, Vanessa Gibbons, Jessica Hoff, Alva Sigfrid, Lisa Megarbane, Andre Nizon, Mathilde Cogné, Benjamin Beneteau, Claire Alkuraya, Fowzan S Chedrawi, Aziza Hashem, Mais O Stamberger, Hannah Weckhuysen, Sarah Vanlander, Arnaud Ceulemans, Berten Rajagopalan, Sulekha Nunn, Kenneth Arpin, Stéphanie Raynaud, Martine Motter, Constance S Ward-Melver, Catherine Janssens, Katrien Meuwissen, Marije Beysen, Diane Dikow, Nicola Grimmel, Mona Haack, Tobias B Clement, Emma McTague, Amy Hunt, David Townshend, Sharron Ward, Michelle Richards, Linda J Simons, Cas Costain, Gregory Dupuis, Lucie Mendoza-Londono, Roberto Dudding-Byth, Tracy Boyle, Jackie Saunders, Carol Fleming, Emily El Chehadeh, Salima Spitz, Marie-Aude Piton, Amelie Gerard, Bénédicte Abi Warde, Marie-Thérèse Rea, Gillian McKenna, Caoimhe Douzgou, Sofia Banka, Siddharth Akman, Cigdem Bain, Jennifer M Sands, Tristan T Wilson, Golder N Silvertooth, Erin J Miller, Lauren Lederer, Damien Sachdev, Rani Macintosh, Rebecca Monestier, Olivier Karadurmus, Deniz Collins, Felicity Carter, Melissa Rohena, Luis Willemsen, Marjolein H Ockeloen, Charlotte W Pfundt, Rolph Kroft, Sanne D Field, Michael Laranjeira, Francisco E R Fortuna, Ana M Soares, Ana R Michaud, Vincent Naudion, Sophie Golla, Sailaja Weaver, David D Bird, Lynne M Friedman, Jennifer Clowes, Virginia Joss, Shelagh Pölsler, Laura Campeau, Philippe M Blazo, Maria Bijlsma, Emilia K Rosenfeld, Jill A Beetz, Christian Powis, Zöe McWalter, Kirsty Brandt, Tracy Torti, Erin Mathot, Mikaël[UCL] Mohammad, Shekeeb S Armstrong, Ruth Kalscheuer, Vera M (2023) Molecular psychiatry — Vol. 28, no. 2, p. 668-697 (2023)
    • 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
    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
    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)