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Displaying 4 results.
    • Journal article
    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)
    • Journal article
    Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    Idkowiak, Jan O'Riordan, Stephen Reisch, Nicole Malunowicz, Ewa M. Collins, Felicity Kerstens, Michiel N. Köhler, Birgit Graul-Neumann, Luitgard Margarete Szarras-Czapnik, Maria Dattani, Mehul Silink, Martin Shackleton, Cedric H. L. Maiter, Dominique[UCL] Krone, Nils Arlt, Wiebke (2011) Journal of Clinical Endocrinology and Metabolism — Vol. 96, no. 3, p. E453-462 (2011)
    • Journal article
    Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    Krone, Nils Reisch, Nicole Idkowiak, Jan Dhir, Vivek Ivison, Hannah E Hughes, Beverly A Rose, Ian T O'Neil, Donna M Vijzelaar, Raymon Smith, Matthew J MacDonald, Fiona Cole, Trevor R Adolphs, Nicolai Barton, John S Blair, Edward M Braddock, Stephen R Collins, Felicity Cragun, Deborah L Dattani, Mehul T Day, Ruth Dougan, Shelley Feist, Miriam Gottschalk, Michael E Gregory, John W Haim, Michaela Harrison, Rachel Olney, Ann Haskins Hauffa, Berthold P Hindmarsh, Peter C Hopkin, Robert J Jira, Petr E Kempers, Marlies Kerstens, Michiel N Khalifa, Mohamed M Köhler, Birgit Maiter, Dominique[UCL] Nielsen, Shelly O'Riordan, Stephen M Roth, Christian L Shane, Kate P Silink, Martin Stikkelbroeck, Nike M M L Sweeney, Elizabeth Szarras-Czapnik, Maria Waterson, John R Williamson, Lori Hartmann, Michaela F Taylor, Norman F Wudy, Stefan A Malunowicz, Ewa M Shackleton, Cedric H L Arlt, Wiebke (2012) Journal of Clinical Endocrinology and Metabolism — Vol. 97, no.2, p. E257-E267 (2012)
    • Journal article
    RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mendola, Antonella[UCL] Cordisco, Maria Rosa Dubois, Josée Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Amor, David J Irvine, Alan D Baselga, Eulalia Dompmartin, Anne Syed, Samira Martin-Santiago, Ana Ades, Lesley Collins, Felicity Smith, Janine Sandaradura, Sarah Barrio, Victoria R Burrows, Patricia E Blei, Francine Cozzolino, Mariarosaria Brunetti-Pierri, Nicola Vicente, Asuncion Abramowicz, Marc Désir, Julie Vilain, Catheline Chung, Wendy K Wilson, Ashley Gardiner, Carol A Dwight, Yim Lord, David J E Fishman, Leona Cytrynbaum, Cheryl Chamlin, Sarah Ghali, Fred Gilaberte, Yolanda Joss, Shelagh Boente, Maria Del C Léauté-Labrèze, Christine Delrue, Marie-Ange Bayliss, Susan Martorell, Loreto González-Enseñat, Maria-Antonia Mazereeuw-Hautier, Juliette O'Donnell, Brid Bessis, Didier Pyeritz, Reed E Salhi, Aicha Tan, Oon T Wargon, Orli Mulliken, John B Vikkula, Miikka[UCL] (2013) Human Mutation — Vol. 34, no.12, p. 1632-1641 (2013)