E-LIB Suche - Ergebnisse für: Biskup, Michael

1

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N W ; Shimamura, Akiko...
https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42. , 2024

Link: https://research.manches..

2

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W ; Shimamura, Akiko...
https://research-information.bris.ac.uk/en/publications/713298c0-e36f-4664-9063-8406743f3374. , 2024

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

3

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N. W ; Shimamura, Akiko...
10.1016/j.xhgg.2024.100273. , 2024

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

4

Data for Matt et al., Organic Electronics 2023:

Matt, Clemens ; Matsidik, Rukiya ; Meyer, Deborah L...
https://github.com/tillbiskup/2023-orgel-data/tree/v1.0-rc1. , 2023

Link: https://zenodo.org/recor..

5

Data for Matt et al., Organic Electronics 2023:

Matt, Clemens ; Matsidik, Rukiya ; Meyer, Deborah L...
https://github.com/tillbiskup/2023-orgel-data/tree/v1.0. , 2023

Link: https://zenodo.org/recor..

6

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N W ; Shimamura, Akiko...
https://research.manchester.ac.uk/en/publications/2e4cec49-439f-44a2-b67d-b7f265e601f3. , 2023

Link: https://research.manches..

7

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N. W ; Shimamura, Akiko...
10.1101/2023.09.27.23294269. , 2023

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

8

Organogels from Diketopyrrolopyrrole Copolymer Ionene/Polyt..:

Stegerer, Dominik ; Pracht, Martin ; Günther, Florian...
0024-9297. , 2022

Link: https://nbn-resolving.or..

9

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain. , 2022

Link: https://ddd.uab.cat/reco..

10

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
qt6xw4z6x0. , 2022

Link: https://escholarship.org..

11

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore R ; Reining, Sophie...
Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J., … Boesch, S. (2021). Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement Disorders.. , 2021

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

12

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore, R ; Reining, Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.28804. , 2021

Link: https://hal.sorbonne-uni..

13

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore ; Reining, Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.28804. , 2021

Link: https://hal.sorbonne-uni..

14

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore, R ; Reining, Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.28804. , 2021

Link: https://hal.sorbonne-uni..

15

Relationship between the Clinical Frailty Scale and short-t..:

Fronczek, Jakub ; Polok, Kamil ; de Lange, Dylan W...
1364-8535. , 2021

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