Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Helenius Jurgen Schelhaas"'
Autor:
Petra van Mierlo, Hilde Braakman, Nele Vandenbussche, Helenius Jurgen Schelhaas, Sigrid Pillen
Publikováno v:
Neuropediatrics, 53(02), 109-114. Georg Thieme Verlag
Background This study explores the prevalence, clinical characteristics, and treatment of epilepsy and sleep disorders in α thalassemia mental retardation (ATR-X) syndrome. Design In this cross-sectional study, 37 participants with ATR-X syndrome ag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d19197a6203ff1f22669f73bb1c0fb
https://doi.org/10.1055/s-0041-1740551
https://doi.org/10.1055/s-0041-1740551
Autor:
Tzung-Chien Hsieh, Yaron Gurovich, Helenius Jurgen Schelhaas, Natasha J Brown, Peter Krawitz, Ingo Helbig, Ewa Obersztyn, Denise Horn, Max Schubach, Stefan Mundlos, Nicolas Chassaing, Yvonne G. Weber, Sebastian Koehler, Alexej Knaus, Hiltrud Muhle, Steven A. Skinner, Patrick Calvas, Peter N. Robinson, Max Zhao, Christian Korff, Nurulhuda Hajjir, Nicole Fleischer, Manuela Pendziwiat, Myrthe van den Born, Hannah Warren, Agnieszka Charzewska, Marten Jäger, Milda Endziniene, Raymond J. Louie, Marc Bohn, Fanny Kortuem, Jean Tori Pantel, Christina Evers, Hans Jürgen Christen, Allan Bayat, Rikke S. Møller
Publikováno v:
Genome Medicine
Genome Medicine, BioMed Central, 2018, 10 (1), pp.1-13. ⟨10.1186/s13073-017-0510-5⟩
Genome Medicine, Vol. 10, No 3 (2018) pp. 1-13
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Knaus, A, Pantel, J T, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T C, Schubach, M, Gurovich, Y, Fleischer, N, Jäger, M, Köhler, S, Muhle, H, Korff, C, Møller, R S, Bayat, A, Calvas, P, Chassaing, N, Warren, H, Skinner, S, Louie, R, Evers, C, Bohn, M, Christen, H J, van den Born, M, Obersztyn, E, Charzewska, A, Endziniene, M, Kortüm, F, Brown, N, Robinson, P N, Schelhaas, H J, Weber, Y, Helbig, I, Mundlos, S, Horn, D & Krawitz, P M 2018, ' Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis ', Genome Medicine, vol. 10, 3 . https://doi.org/10.1186/s13073-017-0510-5
Genome Medicine, 10:3. BioMed Central Ltd.
Genome Medicine, BioMed Central, 2018, 10 (1), pp.1-13. ⟨10.1186/s13073-017-0510-5⟩
Genome Medicine, Vol. 10, No 3 (2018) pp. 1-13
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Knaus, A, Pantel, J T, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T C, Schubach, M, Gurovich, Y, Fleischer, N, Jäger, M, Köhler, S, Muhle, H, Korff, C, Møller, R S, Bayat, A, Calvas, P, Chassaing, N, Warren, H, Skinner, S, Louie, R, Evers, C, Bohn, M, Christen, H J, van den Born, M, Obersztyn, E, Charzewska, A, Endziniene, M, Kortüm, F, Brown, N, Robinson, P N, Schelhaas, H J, Weber, Y, Helbig, I, Mundlos, S, Horn, D & Krawitz, P M 2018, ' Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis ', Genome Medicine, vol. 10, 3 . https://doi.org/10.1186/s13073-017-0510-5
Genome Medicine, 10:3. BioMed Central Ltd.
BackgroundGlycosylphosphatidylinositol 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 corresponding mol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93254e6a8ecd9aee69a9f933a0f27616
https://hdl.handle.net/21.11116/0000-0003-65DF-121.11116/0000-0003-65E1-D
https://hdl.handle.net/21.11116/0000-0003-65DF-121.11116/0000-0003-65E1-D
Autor:
Jo Sourbron, Lieven Lagae, Alfons G. H. Kessels, Helenius Jurgen Schelhaas, Sylvia Klinkenberg, Marian Majoie
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 21(3)
Introduction Vagus Nerve Stimulation (VNS) can be an efficacious add-on treatment in patients with drug-resistant epilepsy, who are not eligible for surgery. Evidence of VNS efficacy in children with intellectual disability (ID) is scarce. Objectives
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be602ec38538587d96a8a1ec63ab9f47
https://pubmed.ncbi.nlm.nih.gov/28188025
https://pubmed.ncbi.nlm.nih.gov/28188025