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by Hengel, Holger and Bosso-Lefèvre, C. lia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Anews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 595 - 16
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an... 
Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Zebrafish | Glucose | Dehydrogenase | Delay | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1556 - 1564
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2018, Volume 176, Issue 4, pp. 925 - 935
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Genome Medicine, ISSN 1756-994X, 02/2019, Volume 11, Issue 1, pp. 12 - 17
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The American Journal of Human Genetics, ISSN 0002-9297, 02/2019, Volume 104, Issue 2, pp. 203 - 212
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The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 752 - 768
Journal Article
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
Journal Article