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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Published in:
2018
By:
- Lessel, Davor;
- Gehbauer, Christina;
- Bramswig, Nuria C;
- Schluth-Bolard, Caroline;
- Venkataramanappa, Sathish;
- Gassen, Koen L I van;
- Hempel, Maja;
- Haack, Tobias B;
- Baresic, Anja;
- Genetti, Casie A;
- van Gassen, Koen L I;
- Funari, Mariana F A;
- Lessel, Ivana;
- Kuhlmann, Leonie;
- Simon, Ruth;
- Liu, Pentao;
- Denecke, Jonas;
- Kuechler, Alma;
- de Kruijff, Ineke;
- Shoukier, Moneef
Publication type:
journal article
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
Published in:
Journal of Child Neurology, 2017, v. 32, n. 6, p. 543, doi. 10.1177/0883073817690094
By:
- Benke, Paul J.;
- Hidalgo, Ryan J.;
- Braffman, Bruce H.;
- Jans, Judith;
- Gassen, Koen L. I. van;
- Sunbul, Rawda;
- El-Hattab, Ayman W.
Publication type:
Article
Hippocampal distribution of vesicular glutamate transporter 1 in patients with temporal lobe epilepsy.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1717, doi. 10.1111/j.1528-1167.2009.02054.x
By:
- van der Hel, W. Saskia;
- Verlinde, Suzanne A. M. W.;
- Meijer, Dimphna H. M.;
- de Wit, Marina;
- Rensen, Marije G.;
- van Gassen, Koen L. I.;
- van Rijen, Peter C.;
- van Veelen, Cees W. M.;
- de Graan, Pierre N. E.
Publication type:
Article
Hippocampal Na<sub>v</sub>β3 expression in patients with temporal lobe epilepsy.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 4, p. 957, doi. 10.1111/j.1528-1167.2008.02015.x
By:
- van Gassen, Koen L. I.;
- de Wit, Marina;
- van Kempen, Marian;
- Saskia van der Hel, W.;
- van Rijen, Peter C.;
- Jackson, Antony P.;
- Lindhout, Dick;
- de Graan, Pierre N. E.
Publication type:
Article
Possible role of the innate immunity in temporal lobe epilepsy.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1055, doi. 10.1111/j.1528-1167.2007.01470.x
By:
- van Gassen, Koen L. I.;
- de Wit, Marina;
- Koerkamp, Marian J. A. Groot;
- Rensen, Marije G. A.;
- van Rijen, Peter C.;
- Holstege, Frank C. P.;
- Lindhout, Dick;
- de Graan, Pierre N. E.
Publication type:
Article
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Published in:
Metabolites (2218-1989), 2020, v. 10, n. 5, p. 206, doi. 10.3390/metabo10050206
By:
- Kerkhofs, Marten H. P. M.;
- Haijes, Hanneke A.;
- Willemsen, A. Marcel;
- van Gassen, Koen L. I.;
- van der Ham, Maria;
- Gerrits, Johan;
- de Sain-van der Velden, Monique G. M.;
- Prinsen, Hubertus C. M. T.;
- van Deutekom, Hanneke W. M.;
- van Hasselt, Peter M.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.
Publication type:
Article
Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus.
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145247
By:
- Jongbloets, Bart C.;
- van Gassen, Koen L. I.;
- Kan, Anne A.;
- Olde Engberink, Anneke H. O.;
- de Wit, Marina;
- Wolterink-Donselaar, Inge G.;
- Groot Koerkamp, Marian J. A.;
- van Nieuwenhuizen, Onno;
- Holstege, Frank C. P.;
- de Graan, Pierre N. E.
Publication type:
Article
Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2994, doi. 10.1093/brain/aws224
By:
- van Gassen, Koen L. I.;
- van der Heijden, Charlotte D. C. C.;
- de Bot, Susanne T.;
- den Dunnen, Wilfred F. A.;
- van den Berg, Leonard H.;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, H. P. H.;
- Veldink, Jan H.;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- van de Warrenburg, Bart P.
Publication type:
Article
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3051, doi. 10.1172/JCI79860
By:
- Houge, Gunnar;
- Haesen, Dorien;
- Vissers, Lisenka E. L. M.;
- Mehta, Sarju;
- Parker, Michael J.;
- Wright, Michael;
- Vogt, Julie;
- McKee, Shane;
- Tolmie, John L.;
- Cordeiro, Nuno;
- Kleefstra, Tjitske;
- Willemsen, Marjolein H.;
- Reijnders, Margot R. F.;
- Berland, Siren;
- Hayman, Eli;
- Lahat, Eli;
- Brilstra, Eva H.;
- van Gassen, Koen L. I.;
- Zonneveld-Huijssoon, Evelien;
- de Bie, Charlotte I.
Publication type:
Article

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