E-LIB Suche - Ergebnisse für: Hengel, Holger

1

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

Link: http://orbilu.uni.lu/han..

2

The frequency of non-motor symptoms in SCA3 and their assoc..:

Hengel, Holger ; Martus, Peter ; Silva, Patrick...
info:eu-repo/semantics/altIdentifier/issn/0939-1517. , 2023

Link: https://pub.dzne.de/reco..

3

Correction to: The frequency of non‑motor symptoms in SCA3 ..:

Hengel, Holger ; Martus, Peter ; Faber, Jennifer...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10769956/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5. , 2023

Link: http://orbilu.uni.lu/han..

5

The frequency of non-motor symptoms in SCA3 and their assoc..:

Hengel, Holger ; Martus, Peter ; Faber, Jennifer...
https://research.rug.nl/en/publications/4381e3d0-dd5f-4ae5-be08-8b9a3f1ac05c. , 2023

Link: https://hdl.handle.net/1..

6

The frequency of non-motor symptoms in SCA3 and their assoc..:

Hengel, Holger ; Martus, Peter ; Silva, Patrick...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00415-022-11441-z. , 2023

Link: https://publications.rwt..

7

The frequency of non-motor symptoms in SCA3 and their assoc..:

Hengel, Holger ; Martus, Peter ; Faber, Jennifer...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886646/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf. , 2022

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

9

The frequency of non-motor symptoms in SCA3 and their assoc..:

Hengel, Holger ; Martus, Peter ; Faber, Jennifer...
https://discovery.ucl.ac.uk/id/eprint/10161753/1/Solanky_The%20frequency%20of%20non-motor%20symptoms%20in%20SCA3%20and%20their%20association%20with%20disease%20severity%20and%20lifestyle%20factors_AOP.pdf. , 2022

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

10

The frequency of non-motor symptoms in SCA3 and their assoc..:

Hengel, Holger ; Martus, Peter ; Faber, Jennifer...
https://doi.org/10.1007/s00415-022-11441-z. , 2022

Link: https://hdl.handle.net/1..

11

Characterization of Lifestyle in Spinocerebellar Ataxia Typ..:

Hengel, Holger ; Martus, Peter ; Santana, Magda M...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34713931. , 2022

Link: https://publications.rwt..

12

Correction to: First-line exome sequencing in Palestinian a..:

Hengel, Holger ; Buchert, Rebecca ; Falana, Mohammed...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00909-7. , 2022

Link: https://pub.dzne.de/reco..

13

Characterization of Lifestyle inSpinocerebellar Ataxia Type..:

Hengel, Holger ; Martus, Peter ; Faber, Jennifer...
https://doi.org/10.1002/mds.28844. , 2022

Link: http://hdl.handle.net/10..

14

Levels of Neurofilament Light at the Preataxic and Ataxic S..:

Wilke, Carlo ; Mengel, David ; Schöls, Ludger...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162044/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Characteristics of serum neurofilament light chain as a bio..:

Kessler, Christoph ; Serna-Higuita, Lina Maria ; Schöls, Ludger...
info:eu-repo/semantics/altIdentifier/issn/2328-9503. , 2022

Link: https://pub.dzne.de/reco..