New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

অনুযায়ী Beygo, Jasmin, Küchler, Alma, Gillessen-Kaesbach, Gabriele, Albrecht, Beate, Eckle, Jonas, Eggermann, Thomas, Gellhaus, Alexandra, Kanber, Deniz, Kordaß, Ulrike, Lüdecke, Hermann-Josef, Purmann, Sabine, Rossier, Eva, van de Nes, Johannes, van der Werf, Ilse M, Wenzel, Maren, Wieczorek, Dagmar, Horsthemke, Bernhard, Buiting, Karin
প্রকাশিত Eur J Hum Genet (2017)

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

অনুযায়ী Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren, Al Mutairi, Fuad, Al Deiab, Hamad, Gleeson, Joseph G., Stanley, Valentina, Zaki, Maha S., Kwon, Yong Tae, Leroux, Michel R., Campeau, Philippe M.
প্রকাশিত Am J Hum Genet (2021)

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

অনুযায়ী Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
প্রকাশিত Brain (2020)

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

অনুযায়ী Vasileiou, Georgia, Vergarajauregui, Silvia, Endele, Sabine, Popp, Bernt, Büttner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmüller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renée, Cho, Megan T., Thiel, Christian T., Lüdecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo, Wilkie, Andrew O.M., Wieczorek, Dagmar, Engel, Felix B., Reis, André
প্রকাশিত Am J Hum Genet (2018)