E-LIB Suche - Ergebnisse für: Gburek-Augustat, Janina

1

Still an Unsolved Question: The Place of Cranial Magnetic R..:

Mittendorf, Luisa ; Bernhard, Matthias K. ; Sterker, Ina...
Children. 11 (2024) 5 - p. 519 , 2024

Link: https://doi.org/10.3390/..

2

The Impact of Demographic Characteristics on Parenting Stre..:

Scheibner, Maxi ; Scheibner, Cora ; Hornemann, Frauke...
Children. 11 (2024) 2 - p. 239 , 2024

Link: https://doi.org/10.3390/..

3

Cerebrospinal Fluid Protein Concentrations in Hydrocephalus:

Wilhelmy, Florian ; Krause, Matthias ; Schob, Stefan...
Children. 10 (2023) 4 - p. 644 , 2023

Link: https://doi.org/10.3390/..

4

Case report: Complete paternal isodisomy on chromosome 18 i..:

Moch, Johanna ; Radtke, Maximilian ; Gburek-Augustat, Janina...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

Natural History and Developmental Trajectories of Individua..:

Thalwitzer, Kim M. ; Driedger, Jan H. ; Xian, Julie...
Neurology. 101 (2023) 9 - p. , 2023

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

6

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023

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

7

Bi-allelic variants inCHKAcause a neurodevelopmental disord..:

Klöckner, Chiara ; Fernández-Murray, J Pedro ; Tavasoli, Mahtab...
Brain. 145 (2022) 6 - p. 1916-1923 , 2022

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

8

GABBR1 monoallelic de novo variants linked to neurodevelopm..:

Cediel, Maria Lucia ; Stawarski, Michal ; Blanc, Xavier...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1885-1893 , 2022

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

9

The ARCA Registry: A Collaborative Global Platform for Adva..:

Traschütz, Andreas ; Reich, Selina ; Adarmes, Astrid D....
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

10

CDK19-related disorder results from both loss-of-function a..:

Zarate, Yuri A. ; Uehara, Tomoko ; Abe, Kota...
Genetics in Medicine. 23 (2021) 6 - p. 1050-1057 , 2021

Link: https://doi.org/10.1038/..

11

Unusual mechanical failures of intrathecal baclofen pump sy..:

Gburek-Augustat, Janina ; Krause, Matthias ; Bernhard, Matthias...
Child's Nervous System. 37 (2021) 8 - p. 2597-2604 , 2021

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

12

Focal Seizures and Posterior Reversible Encephalopathy Synd..:

Funken, Dominik ; Götz, Friedrich ; Bültmann, Eva...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

De novo ITPR1 variants are a recurrent cause of early-onset..:

Synofzik, Matthis ; Helbig, Katherine L. ; Harmuth, Florian...
European Journal of Human Genetics. 26 (2018) 11 - p. 1623-1634 , 2018

Link: https://doi.org/10.1038/..

14

Epilepsy is not a mandatory feature of STXBP1 associated at..:

Gburek-Augustat, Janina ; Beck-Woedl, Stefanie ; Tzschach, Andreas...
European Journal of Paediatric Neurology. 20 (2016) 4 - p. 661-665 , 2016

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

15

Phenotype and frequency of STUB1 mutations: next-generation..:

Synofzik, Matthis ; Schüle, Rebecca ; Schulze, Martin...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. 57 , 2014

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