Intellectual Disability and Epilepsy in Down Syndrome

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

Expanding the clinical spectrum of biallelic ZNF335 variants

অনুযায়ী 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.
প্রকাশিত Clin Genet (2018)

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

অনুযায়ী 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
প্রকাশিত 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

অনুযায়ী 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.
প্রকাশিত Lancet Diabetes Endocrinol (2019)

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

অনুযায়ী 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
প্রকাশিত Lancet Diabetes Endocrinol (2020)