|
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| 1. |
Driedger, Jan Henje: Refining genotypes and phenotypes in KCNA2-related neurological disorders / Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobia… , 10 March 2021
In: International journal of molecular sciences, ISSN 1422-0067. 22(2021), 6, Artikel-ID 2824, Seite 1-16
DOI: 10.3390/ijms22062824
 Online-Ressource  Zeitschriftenartikel |
|
|
| 2. |
Møller, Rikke S.: Parental mosaicism in epilepsies due to alleged de novo variants / Rikke S. Møller, Nora Liebmann, Line H.G. Larsen, Mathias Stiller, Julia Hentschel, Nahrain Kako, Da… , 11 May 2019. - 4 S.
In: Epilepsia, ISSN 1528-1167. 60(2019), 6, Seite e63-e66
DOI: 10.1111/epi.15187
Online-Ressource Zeitschriftenartikel |
|
|
| 3. |
Brunklaus, Andreas: The gain of function SCN1A disorder spectrum : novel epilepsy phenotypes and therapeutic implications / Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mih… , 13 June 2022. - 16 S.
In: Brain, ISSN 1460-2156. 145(2022), 11 vom: Juni, Seite 3816-3831
DOI: 10.1093/brain/awac210
Online-Ressource Zeitschriftenartikel |
|
|
| 4. |
Bonardi, Claudia M.: KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum / Claudia M. Bonardi, Henrike O. Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewi… , June 11, 2021. - 16 S.
In: Brain, ISSN 1460-2156. 144(2021), 12 vom: Dez., Seite 3635-3650
DOI: 10.1093/brain/awab219
Online-Ressource Zeitschriftenartikel |
|
|
| 5. |
Vetro, Annalisa: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria / Annalisa Vetro, Hang N Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zoe Powis, Rikke S. Møl… , May 10, 2021. - 16 S.
In: Brain, ISSN 1460-2156. 144(2021), 5, Seite 1435-1450
DOI: 10.1093/brain/awab052
Online-Ressource Zeitschriftenartikel |
|
|
| 6. |
Driedger, Jan Henje: Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy / Jan H. Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. J… , [October 2022]. - 11 S. : Diagramme
In: Neurology, ISSN 2376-7839. 8(2022), 5 vom: Okt., Seite 1-11
DOI: 10.1212/NXG.0000000000200020
Online-Ressource Zeitschriftenartikel |
|
|
| 7. |
Krey, Ilona: The Angelman Syndrome Online Registry - a multilingual approach to support global research / Ilona Krey, Constanze Heine, Marcel Frömming, Julia Herrmann, Rikke S. Møller, Sarah Weckhuysen, Car… , 4 October 2021. - 5 S.
In: European journal of medical genetics, ISSN 1878-0849. 64(2021), 12, Artikel-ID 104349, Seite 1-5
DOI: 10.1016/j.ejmg.2021.104349
Online-Ressource Zeitschriftenartikel |
|
|
| 8. |
Fitzgerald, Mark P.: Treatment responsiveness in KCNT1-related epilepsy / Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffe… , 03 May 2019. - 10 S.
In: Neurotherapeutics, ISSN 1878-7479. 16(2019), 3, Seite 848-857
DOI: 10.1007/s13311-019-00739-y
Online-Ressource Zeitschriftenartikel |
|
|
| 9. |
Bayat, Allan: Deep-phenotyping the less severe spectrum of PIGT deficiency and linking the gene to myoclonic atonic seizures / Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Stef… , 11 May 2021. - 12 S.
In: Frontiers in genetics, ISSN 1664-8021. 12(2021), Artikel-ID 663643, Seite 1-12
Online-Ressource Zeitschriftenartikel |
|
|
| 10. |
Kovel, Carolien de: Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes / Carolien G.F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, A… , August 14, 2017. - 9 S.
In: JAMA neurology, ISSN 2168-6157. 74(2017), 10, Seite 1228-1236
DOI: 10.1001/jamaneurol.2017.1714
Online-Ressource Zeitschriftenartikel |
|
|
| 11. |
Heyne, Henrike: Predicting functional effects of missense variants in voltage-gated sodium and calcium channels / Henrike O. Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May,… , 12 August 2020. - 16 S.
In: Science translational medicine, ISSN 1946-6242. 12(2020,556) Artikel-Nummer eaay6848, 16 Seiten
DOI: 10.1126/scitranslmed.aay6848
Online-Ressource Zeitschriftenartikel |
|
|
| 12. |
Thomsen, Dorthe Kirkegaard: Storying mental illness and personal recovery / Dorthe Kirkegaard Thomsen, Tine Holm, Rikke Amalie Agergaard Jensen, Majse Lind, Anne Mai Pedersen. -
Cambridge ; New York, NY: Cambridge University Press, 2023. - x, 297 Seiten : Illustrationen, ISBN 978-1-108-83045-4
 Buch/keine Angabe |
ausleihbar  Signatur: 2023 A 1935
|
|
| 13. |
Masnada, Silvia: Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies / Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, B… . - 18 S.
In: Brain, ISSN 1460-2156. 140(2017), 9, S. 2337-2354
DOI: 10.1093/brain/awx184
Online-Ressource Zeitschriftenartikel |
|
|
| 14. |
Driedger, Jan Henje: The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood / Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G… , 28 October 2020. - 14 S.
In: Biomedicines, ISSN 2227-9059. 8(2020), 11, Artikel-ID 456, Seite 1-14
DOI: 10.3390/biomedicines8110456
Online-Ressource Zeitschriftenartikel |
|
|
| 15. |
Wolff, Markus: Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders / Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gard… , 04 April 2017. - 21 S.
In: Brain, ISSN 1460-2156. 140(2017), 5, Seite 1316-1336
DOI: 10.1093/brain/awx054
Online-Ressource Zeitschriftenartikel |
|
|
| 16. |
Cortese, Samuele: Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents : a systematic review / Samuele Cortese, Marco Solmi, Giorgia Michelini, Alessio Bellato, Christina Blanner, Andrea Canozzi,… , 14 January 2023. - 21 S.
In: World psychiatry, ISSN 2051-5545. 22(2023), 1 vom: Jan., Seite 129-149
DOI: 10.1002/wps.21037
Online-Ressource Zeitschriftenartikel |
|
|
| 17. |
Wulff Krabbenhöft, Rikke: Woolley's "public chapels" at Ur and other small shrines in the Isin-Larsa and Old Babylonian periods / Rikke Wulff Krabbenhøft & Peter A. Miglus, 2021. - 27 S.
In: Altorientalische Variationen. (2021), Seite 111-137
Buch/keine Angabe |
ausleihbar Signatur: 2022 B 289
|
|
| 18. |
Lemke, Johannes: Delineating the GRIN1 phenotypic spectrum / Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Hannah Schütz, Julia Hents… . - 8 S.
In: Neurology, ISSN 1526-632X. 86(2016), 23, S. 2171-2178
DOI: 10.1212/WNL.0000000000002740
Online-Ressource Zeitschriftenartikel |
|
|
| 19. |
Syrbe, Steffen: Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy / Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helb… , 2017. - 15 S.
In: Brain, ISSN 1460-2156. 140(2017), 9, Seite 2322-2336
DOI: 10.1093/brain/awx195
Online-Ressource Zeitschriftenartikel |
|
|
| 20. |
Ellemann-Biltoft, Rikke: Structural phase transitions in synthetic analogues of the titanite structure type / Rikke Ellemann-Olesen, 2005. - Online-Ressource (176 S.)
DOI: 10.11588/heidok.00005414
Online-Ressource |
|
|
|
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