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Number of items: 3.

Journal Article

Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas ORCID: 0000-0002-0119-5896, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W. Y., Ahring, Philip K., Moller, Rikke S. ORCID: 0000-0002-9664-1448 and Gardella, Elena (2022). Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genet. Med., 24 (3). S. 681 - 694. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Ng, Joanne ORCID: 0000-0002-7946-9965, Zhen, Juan ORCID: 0000-0002-6111-9692, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian ORCID: 0000-0003-4220-0978, Rider, Nicholas L., Morton, D. Holmes, Strauss, Kevin A., Puffenberger, Erik G., D'Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo ORCID: 0000-0002-2314-6139, Borck, Guntram, Reith, Maarten E. A. and Kurian, Manju A. (2014). Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain, 137. S. 1107 - 1120. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Moller, Rikke S. ORCID: 0000-0002-9664-1448, King, Mary D., Hammer, Trine Bjorg, Spaull, Robert ORCID: 0000-0003-4096-6945, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M. and Kurian, Manju A. (2021). RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology, 96 (11). S. E1539 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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