Zobrazeno 1 - 10
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pro vyhledávání: '"HELENIUS, J."'
Akademický článek
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Akademický článek
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Autor:
Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz‐Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele
Publikováno v:
Epilepsia (Series 4); Sep2024, Vol. 65 Issue 9, p2728-2750, 23p
Autor:
Snoeijen-Schouwenaars, Francesca M., Young, Charlotte, Rowe, Charles, van Ool, Jans S., Schelhaas, Helenius J., Shankar, Rohit
Publikováno v:
In Epilepsy & Behavior November 2021 124
Autor:
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresp
Externí odkaz:
https://doaj.org/article/65a240001c28434ca259e07e806334ff
Akademický článek
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Autor:
Hugte, Eline J H van, Lewerissa, Elly I, Wu, Ka Man, Scheefhals, Nicky, Parodi, Giulia, Voorst, Torben W van, Puvogel, Sofia, Kogo, Naoki, Keller, Jason M, Frega, Monica, Schubert, Dirk, Schelhaas, Helenius J, Verhoeven, Judith, Majoie, Marian, Bokhoven, Hans van, Kasri, Nael Nadif
Publikováno v:
Brain: A Journal of Neurology; Dec2023, Vol. 146 Issue 12, p5153-5167, 15p
Autor:
Aguan D, Wei, Paul, Wakenight, Theresa A, Zwingman, Angela M, Bard, Nikhil, Sahai, Marjolein H, Willemsen, Helenius J, Schelhaas, Alexander P A, Stegmann, Judith S, Verhoeven, Stella A, de Man, Marja W, Wessels, Tjitske, Kleefstra, Deepali N, Shinde, Katherine L, Helbig, Alice, Basinger, Victoria F, Wagner, David, Rodriguez-Buritica, Emily, Bryant, John J, Millichap, Kathleen J, Millen, William B, Dobyns, Jan-Marino, Ramirez, Franck K, Kalume
Publikováno v:
J Neurophysiol
We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7bb22d128da88c1a4a5199219f0c020e
https://pubmed.ncbi.nlm.nih.gov/35583973
https://pubmed.ncbi.nlm.nih.gov/35583973
Autor:
Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume
Publikováno v:
Journal of Neurophysiology, 128(1), 40-61. American Physiological Society
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61
We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::642861c243e1b13561f237e928630bf1
https://doi.org/10.1152/jn.00509.2021
https://doi.org/10.1152/jn.00509.2021
Autor:
Leen J. Blok, Riccardo Fodde, Curt W. Burger, J. Anton Grootegoed, J. Julie Kim, Patricia C. Ewing, Helena C. van Doorn, Jos Veldscholte, Patrick Franken, Helenius J. Kloosterboer, Eline E. Hanekamp, Payman Hanifi-Moghaddam, Yongyi Wang
Purpose. Wnt signaling regulates the fine balance between stemness and differentiation. Here, the role of Wnt signaling to maintain the balance between estrogen-induced proliferation and progesterone-induced differentiation during the menstrual cycle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6396a9001a13b1a9a88a1d525adcfac0
https://doi.org/10.1158/1078-0432.c.6517768.v1
https://doi.org/10.1158/1078-0432.c.6517768.v1
