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Journal Article
Bramswig, Nuria C., Luedecke, Hermann-Josef, Hamdan, Fadi F., Altmueller, Janine, Beleggia, Filippo 
ORCID: 0000-0003-0234-7094, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G., Kuechler, Alma, Li, Yun, Lowenstein, Daniel H., Michaud, Jacques L., Park, Kristen, Stegmann, Alexander P. A., Veenstra-Knol, Hermine E., Wieland, Thomas, Wollnik, Bernd, Engels, Hartmut, Strom, Tim M., Kleefstra, Tjitske and Wieczorek, Dagmar
(2017).
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum. Genet., 136 (7).
S. 821 - 835.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Campbell, Ciaran ORCID: 0000-0001-8267-5252, Leu, Costin, Feng, Yen-Chen Anne, Wolking, Stefan ORCID: 0000-0002-1460-6623, Moreau, Claudia ORCID: 0000-0002-1480-3045, Ellis, Colin, Ganesan, Shiva, Martins, Helena, Oliver, Karen, Boothman, Isabelle ORCID: 0000-0002-3056-9121, Benson, Katherine, Molloy, Anne, Brody, Lawrence, Michaud, Jacques L., Hamdan, Fadi F., Minassian, Berge A., Lerche, Holger, Scheffer, Ingrid E., Sisodiya, Sanjay, Girard, Simon, Cosette, Patrick, Delanty, Norman, Lal, Dennis and Cavalleri, Gianpiero L.
(2022).
The role of common genetic variation in presumed monogenic epilepsies.
EBioMedicine, 81.
AMSTERDAM:
ELSEVIER.
ISSN 2352-3964