Intellectual Disability and Epilepsy in Down Syndrome

מאת BARCA, Diana, TARTA-ARSENE, Oana, DICA, Alice, ILIESCU, Catrinel, BUDISTEANU, Magdalena, MOTOESCU, Cristina, BUTOIANU, Niculina, CRAIU, Dana
הוצא לאור ב Maedica (Bucur) (2014)

Expanding the clinical spectrum of biallelic ZNF335 variants

מאת 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.
הוצא לאור ב Clin Genet (2018)

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

מאת 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
הוצא לאור ב 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

מאת 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.
הוצא לאור ב Lancet Diabetes Endocrinol (2019)

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

מאת 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
הוצא לאור ב Lancet Diabetes Endocrinol (2020)