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2022
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
2017
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