Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder
Brugger, Melanie, Brunet, Theresa, Wagner, Matias, Orec, Laura Elena, Schwaibold, Eva Maria Christina, Boy, Nikolas
Published in Gene (05.02.2021)
Published in Gene (05.02.2021)
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PIGN encephalopathy: Characterizing the epileptology
Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P. A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.
Published in Epilepsia (Copenhagen) (01.04.2022)
Published in Epilepsia (Copenhagen) (01.04.2022)
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