E-LIB Suche - Ergebnisse für: KLEIN, KARL MARTIN

1

Identification of a mosaic MTOR variant in purified neurona..:

Klein, Karl Martin ; Mascarenhas, Rumika ; Merrikh, Daria...
Epilepsia. 65 (2024) 6 - p. 1768-1776 , 2024

Link: https://doi.org/10.1111/..

2

Mapping interictal discharges using intracranial EEG-fMRI t..:

Wilson, William ; Tehrani, Negar ; Pittman, Daniel J...
Brain. , 2024

Link: https://doi.org/10.1093/..

3

Brain mosaicism of hedgehog signalling and other cilia gene..:

Green, Timothy E. ; Fujita, Atsushi ; Ghaderi, Navid...
Neurobiology of Disease. 185 (2023) - p. 106261 , 2023

Link: https://doi.org/10.1016/..

4

A novel FAME1 repeat configuration in a European family ide..:

Maroilley, Tatiana ; Tsai, Meng‐Han ; Mascarenhas, Rumika...
Epilepsia Open. 8 (2023) 2 - p. 659-665 , 2023

Link: https://doi.org/10.1002/..

5

Mosaic variants detectable in blood extend the clinicogenet..:

Green, Timothy E. ; Bennett, Mark F. ; Immisch, Ilka...
Genetics in Medicine Open. 1 (2023) 1 - p. 100810 , 2023

Link: https://doi.org/10.1016/..

6

Machine learning using multimodal clinical, electroencephal..:

Delgado‐García, Guillermo ; Engbers, Jordan D. T. ; Wiebe, Samuel...
Epilepsia. 64 (2023) 10 - p. 2781-2791 , 2023

Link: https://doi.org/10.1111/..

7

The phenotypic and genotypic spectrum of epilepsy and intel..:

von Brauchitsch, Sophie ; Haslinger, Denise ; Lindlar, Silvia...
Epilepsia Open. 8 (2023) 2 - p. 497-508 , 2023

Link: https://doi.org/10.1002/..

8

Genetics of familial adult myoclonus epilepsy: From linkage..:

Corbett, Mark A. ; Depienne, Christel ; Veneziano, Liana...
Epilepsia. 64 (2023) S1 - p. , 2023

Link: https://doi.org/10.1111/..

9

Genetic syndromes associated with frontal lobe epilepsy:

Fehr, Cassie ; Klein, Karl Martin
Zeitschrift für Epileptologie. 35 (2022) 1 - p. 32-35 , 2022

Link: https://doi.org/10.1007/..

10

Spectrum of Phenotypic, Genetic, and Functional Characteris..:

Schwarz, Niklas ; Seiffert, Simone ; Pendziwiat, Manuela...
Neurology. 98 (2022) 20 - p. , 2022

Link: https://doi.org/10.1212/..

11

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, Hannah ; Crosiers, David ; Balagura, Ganna...
Neurology. 99 (2022) 3 - p. , 2022

Link: https://doi.org/10.1212/..

12

Health-related quality of life in children and adolescents ..:

Willems, Laurent M. ; Schubert-Bast, Susanne ; Grau, Janina...
European Journal of Paediatric Neurology. 35 (2021) - p. 111-122 , 2021

Link: https://doi.org/10.1016/..

13

Direct and indirect costs and cost-driving factors in adult..:

Zöllner, Johann Philipp ; Grau, Janina ; Rosenow, Felix...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

14

Real-life survey of pitfalls and successes of precision med..:

Balestrini, Simona ; Chiarello, Daniela ; Gogou, Maria...
Journal of Neurology, Neurosurgery & Psychiatry. 92 (2021) 10 - p. 1044-1052 , 2021

Link: https://doi.org/10.1136/..

15

Direct and indirect costs and cost-driving factors of Tuber..:

Grau, Janina ; Zöllner, Johann Philipp ; Schubert-Bast, Susanne...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..