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Affichage: 2 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
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum
    Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile[UCL] Palmer, Elizabeth E Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane (2016) Journal of Medical Genetics — Vol. 53, no. 12, p. 820-827 (2016)