@article{UBHD-69214040, author={Begemann, Anaïs and Sticht, Heinrich and Begtrup, Amber and Vitobello, Antonio and Faivre, Laurence and Banka, Siddharth and Alhaddad, Bader and Asadollahi, Reza and Becker, Jessica and Bierhals, Tatjana and Brown, Kathleen E. and Bruel, Ange-Line and Brunet, Theresa and Carneiro, Maryline and Cremer, Kirsten and Day, Robert and Denommé-Pichon, Anne-Sophie and Dyment, Dave A. and Engels, Hartmut and Fisher, Rachel and Goh, Elaine S. and Hajianpour, M. J. and Haertel, Lucia Ribeiro Machado and Hauer, Nadine and Hempel, Maja and Herget, Theresia and Johannsen, Jessika and Kraus, Cornelia and Le Guyader, Gwenaël and Lesca, Gaetan and Mau-Them, Frédéric Tran and McDermott, John Henry and McWalter, Kirsty and Meyer, Pierre and Õunap, Katrin and Popp, Bernt and Reimand, Tiia and Riedhammer, Korbinian M. and Russo, Martina and Sadleir, Lynette G. and Saenz, Margarita and Schiff, Manuel and Schuler, Elisabeth and Syrbe, Steffen and Van der Ven, Amelie Theresa and Verloes, Alain and Willems, Marjolaine and Zweier, Christiane and Steindl, Katharina and Zweier, Markus and Rauch, Anita}, title={New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics}, year={2021}, pages={543-554}, language={eng}, issn={1530-0366}, volume={23}, number={3 vom: M{\"a}rz}, note={Online ver{\"o}ffentlicht: 5. November 2020 ; Gesehen am 15.05.2024}, journal={Genetics in medicine}, doi={10.1038/s41436-020-01011-x}, } @article{UBHD-68557327, author={Butler, Kameryn M. and Moody, Olivia A. and Schuler, Elisabeth and Coryell, Jason and Alexander, John J. and Jenkins, Andrew and Escayg, Andrew}, title={De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy}, year={2018}, pages={2392-2405}, language={eng}, issn={1460-2156}, volume={141}, number={8}, note={Gesehen am 24.03.2020}, journal={Brain}, doi={10.1093/brain/awy171}, } @article{UBHD-69297011, author={Cuccurullo, Claudia and Syrbe, Steffen and Schuler, Elisabeth}, title={Clinical features and genotype-phenotype correlations in epilepsy patients with de novo variants}, year={2024}, pages={2728-2750}, language={eng}, issn={1528-1167}, volume={65}, number={9}, note={Ver{\"o}ffentlicht: 02 July 2024 ; Gesehen am 03.02.2025}, journal={Epilepsia}, doi={10.1111/epi.18054}, } @book{UBHD-66869682, author={Schuler, Elisabeth}, title={Development of a computer controlled system to assess learning and memory in zebrafish}, year={2009}, pages={XIII, 85 S.}, language={eng}, school={Heidelberg, Univ., Diss., 2009}, library={UB [Signatur: 2010 U 303]}, } @article{UBHD-68745891, author={Sonnek, Benedikt and Driedger, Jan Henje and M{\"u}tze, Ulrike and Schubert-Bast, Susanne and Bast, Thomas and Balke, Doreen and Reuner, Gitta and Schuler, Elisabeth and Klabunde-Cherwon, Annick and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen}, title={Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)}, year={2021}, pages={121-127}, language={eng}, issn={1532-2130}, volume={30}, note={Online 24 October 2020 ; Gesehen am 08.06.2021}, journal={European journal of paediatric neurology}, doi={10.1016/j.ejpn.2020.10.010}, } @article{UBHD-68571211, author={XiangWei, Wenshu and Kannan, Varun and Xu, Yuchen and Kosobucki, Gabrielle J. and Schulien, Anthony J. and Kusumoto, Hirofumi and Moufawad El Achkar, Christelle and Bhattacharya, Subhrajit and Lesca, Gaetan and Nguyen, Sylvie and Helbig, Katherine L. and Cuisset, Jean-Marie and Fenger, Christina D{\"u}hring and Marjanovic, Dragan and Schuler, Elisabeth and Wu, Ye and Bao, Xinhua and Zhang, Yuehua and Dirkx, Nina and Schoonjans, An-Sofie and Syrbe, Steffen and Myers, Scott J. and Poduri, Annapurna and Aizenman, Elias and Traynelis, Stephen F. and Lemke, Johannes and Yuan, Hongjie and Jiang, Yuwu}, title={Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy}, year={2019}, pages={3009-3027}, language={eng}, issn={1460-2156}, volume={142}, number={10}, note={Gesehen am 28.04.2020}, journal={Brain}, doi={10.1093/brain/awz232}, }