E-LIB Suche - Ergebnisse für: Vihola, A.

1

Bi-allelic loss-of-function OBSCN variants predispose indiv..:

Cabrera-Serrano, M ; Caccavelli, L ; Savarese, M...
https://discovery.ucl.ac.uk/id/eprint/10141366/1/awab484.pdf. , 2022

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

2

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021

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

3

Missense mutations in small muscle protein X-linked (SMPX) ..:

Johari M ; Sarparanta J ; Vihola A...
info:eu-repo/semantics/altIdentifier/pmid/33974137. , 2021

Link: http://hdl.handle.net/24..

4

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021

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

5

Panorama of the distal myopathies:

Savarese, M ; Sarparanta, J ; Vihola, A...
10.36185/2532-1900-028. , 2021

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

6

Diagnostic anoctamin-5 protein defect in patients with ANO5..:

Vihola, A ; Luque, H ; Savarese, M...
1365-2990. , 2018

Link: https://trepo.tuni.fi/ha..

7

Interpreting Genetic Variants in Titin in Patients With Mus..:

M. Savarese ; L. Maggi ; A. Vihola...
info:eu-repo/semantics/altIdentifier/pmid/29435569. , 2018

Link: http://hdl.handle.net/24..

8

Histopathological differences of myotonic dystrophy type 1 ..:

A. Vihola ; G. Bassez ; S. Zhang...
info:eu-repo/semantics/altIdentifier/pmid/12796551. , 2003

Link: http://hdl.handle.net/24..

9

Extension of the DNAJB2a isoform in a dominant neuromyopath..:

Sarparanta, Jaakko ; Jonson, Per Harald ; Reimann, Jens...
10.1093/hmg/ddad058. , 2023

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

10

On the Forgetting of Particle Filters:

Karjalainen, Joona ; Lee, Anthony ; Singh, Sumeetpal S.
http://arxiv.org/abs/2309.08517. , 2023

Link: http://arxiv.org/abs/230..

11

HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:

Tedesco, Barbara ; Vendredy, Leen ; Adriaenssens, Elias...
info:eu-repo/semantics/altIdentifier/pmid/36854646. , 2023

Link: https://hdl.handle.net/2..

12

HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:

Tedesco, Barbara ; Vendredy, Leen ; Adriaenssens, Elias...
8. , 2023

Link: https://trepo.tuni.fi/ha..

13

Simulating counterfactuals:

Karvanen, Juha ; Tikka, Santtu ; Vihola, Matti
http://arxiv.org/abs/2306.15328. , 2023

Link: http://arxiv.org/abs/230..

14

Bi-allelic loss-of-function OBSCN variants predispose indiv..:

Cabrera-Serrano, Macarena ; Caccavelli, Laure ; Savarese, Marco...
10.1093/brain/awab484. , 2023

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

15

On the convergence of dynamic implementations of Hamiltonia..:

Durmus, Alain ; Gruffaz, Samuel ; Kailas, Miika..
http://arxiv.org/abs/2307.03460. , 2023

Link: http://arxiv.org/abs/230..