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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., de Marco, P., & 52 others , 1 Nov 2023, In: Genetics in medicine. 25, 11, 100950.Research output: Contribution to journal › Article › Academic › peer-review
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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M., Lauridsen, M. F., & 23 others , 1 Aug 2023, In: Clinical genetics. 104, 2, p. 186-197 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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DLG4-related synaptopathy: a new rare brain disorder
Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. M., Bjerregaard, V. A., Bruel, A. L., Challman, T. D., Cogné, B., Coubes, C., de Man, S. A., Denommé-Pichon, A. S., Dye, T. J., & 66 others , May 2021, In: Genetics in medicine. 23, 5, p. 888-899 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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