Intellectual Disability and Epilepsy in Down Syndrome

door BARCA, Diana, TARTA-ARSENE, Oana, DICA, Alice, ILIESCU, Catrinel, BUDISTEANU, Magdalena, MOTOESCU, Cristina, BUTOIANU, Niculina, CRAIU, Dana
Gepubliceerd in Maedica (Bucur) (2014)

Expanding the clinical spectrum of biallelic ZNF335 variants

door Stouffs, Katrien, Stergachis, Andrew B., Vanderhasselt, Tim, Dica, Alice, Janssens, Sandra, Vandervore, Laura, Gheldof, Alexander, Bodamer, Olaf, Keymolen, Kathelijn, Seneca, Sara, Liebaers, Inge, Jayaraman, Divya, Hill, Haley E., Partlow, Jennifer N., Walsh, Christopher A., Jansen, Anna C.
Gepubliceerd in Clin Genet (2018)

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

door Rudolf, Gabrielle, Lesca, Gaetan, Mehrjouy, Mana M, Labalme, Audrey, Salmi, Manal, Bache, Iben, Bruneau, Nadine, Pendziwiat, Manuela, Fluss, Joel, de Bellescize, Julitta, Scholly, Julia, Møller, Rikke S, Craiu, Dana, Tommerup, Niels, Valenti-Hirsch, Maria Paola, Schluth-Bolard, Caroline, Sloan-Béna, Frédérique, Helbig, Katherine L, Weckhuysen, Sarah, Edery, Patrick, Coulbaut, Safia, Abbas, Mohamed, Scheffer, Ingrid E, Tang, Sha, Myers, Candace T, Stamberger, Hannah, Carvill, Gemma L, Shinde, Deepali N, Mefford, Heather C, Neagu, Elena, Huether, Robert, Lu, Hsiao-Mei, Dica, Alice, Cohen, Julie S, Iliescu, Catrinel, Pomeran, Cristina, Rubenstein, James, Helbig, Ingo, Sanlaville, Damien, Hirsch, Edouard, Szepetowski, Pierre
Gepubliceerd in Eur J Hum Genet (2016)

Effectiveness and safety of Triac in children and adults with MCT8 deficiency: an international, multicentre, single group, open-label, phase 2 trial

door Groeneweg, Stefan, Peeters, Robin P., Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F.M., McGowan, Anne, Lyons, Greta, Aarsen, Femke K., Barca, Diana, van Beynum, Ingrid. M., van der Knoop, Marieke M., Jansen, Jurgen, Manshande, Martien, Lunsing, Roelineke J., Nowak, Stan, den Uil, Corstiaan A., Carola Zillikens, M., Visser, Frank E., Vrijmoeth, Paul, de Wit, Marie Claire Y., Wolf, Nicole I., Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B., Medici, Marco, Bertini, Enrico S., Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Petit, Isabelle Oliver, Polak, Michel, Chatterjee, Krishna, Visser, Theo J., Edward Visser, W.
Gepubliceerd in Lancet Diabetes Endocrinol (2019)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

door Groeneweg, Stefan, van Geest, Ferdy S, Abaci, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem, Armour, Christine, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castaglioni, Claudia, Castellotti, Barbara, Chatterjee, Krishna, de Coo, Irenaeus FM, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein HG, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Lorea, Cláudia Fernandes, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Koolen, David, Konrad, Daniel, Krude, Heiko, Lawson–Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, Lourenço, Charles Marques, McGowan, Anne, Mericq, Veronica, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, de Oliveira Poswar, Fabiano, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba Seven, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou AM, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward
Gepubliceerd in Lancet Diabetes Endocrinol (2020)