E-LIB Suche - Ergebnisse für: Pavelekova, P.

1

Predictors of whole exome sequencing in dystonic cerebral p..:

Pavelekova, P. ; Necpal, J. ; Jech, R....
Parkinsonism & Related Disorders. 111 (2023) - p. 105352 , 2023

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

2

Atypical presentations of DYT1 dystonia with acute cranioce..:

Pavelekova, P. ; Jech, R. ; Zech, M....
Parkinsonism & Related Disorders. 83 (2021) - p. 54-55 , 2021

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

3

Prevalence of Fabry Disease among Patients with Parkinson's..:

Lackova, A ; Beetz, C ; Oppermann, S...
https://discovery.ucl.ac.uk/id/eprint/10144423/1/Houlden_1014950.pdf. , 2022

Link: https://discovery.ucl.ac..

4

WARS2 mutations cause dopa-responsive early-onset parkinson..:

Skorvanek, M ; Rektorova, I ; Mandemakers, W...
https://discovery.ucl.ac.uk/id/eprint/10177995/3/Rizig_WARS2%20mutations%20cause%20dopa-responsive%20early-onset%20parkinsonism%20and%20progressive%20myoclonus%20ataxia_AAM.pdf. , 2022

Link: https://discovery.ucl.ac..

5

De novo variants in neurodevelopmental disorders-experience..:

Brunet, T ; Jech, R ; Brugger, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.13946. , 2021

Link: https://push-zb.helmholt..

6

Variant recurrence confirms the existence of a FBXO31 -rela..:

Dzinovic, I ; Škorvánek, M ; Pavelekova, P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/acn3.51335. , 2021

Link: https://push-zb.helmholt..

7

Monogenic variants in dystonia: an exome-wide sequencing st..:

Zech M ; Jech R ; Boesch S...
14744465. , 2020

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

8

Monogenic variants in dystonia: An exome-wide sequencing st..:

Zech, M ; Jech, R ; Boesch, S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/S1474-4422(20)30312-4. , 2020

Link: https://push-zb.helmholt..