E-LIB Suche - Ergebnisse für: Lek, M

1

P154 The generation of a GNE myopathy patient-derived bioba..:

Koczwara, K. ; Lake, N. ; Huang, S....
Neuromuscular Disorders. 33 (2023) - p. S138 , 2023

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

2

P299 Over-expression of FKRP in heart induces myocarditis a..:

Huang, S. ; Ma, K. ; Cohen, J....
Neuromuscular Disorders. 33 (2023) - p. S118 , 2023

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

3

INV02 High throughput functional assays to improve interpre..:

Lek, M.
Neuromuscular Disorders. 33 (2023) - p. S66 , 2023

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

4

P172 Exploring the diagnostic ability of RNA-seq to identif..:

Gaynor, A. ; Hale, M. ; Lek, M....
Neuromuscular Disorders. 33 (2023) - p. S108 , 2023

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

5

O.10A novel target for splice-modulating therapies: a commo..:

Bolduc, V. ; Foley, A. ; Solomon Degefa, H....
Neuromuscular Disorders. 29 (2019) - p. S40-S41 , 2019

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

6

MOLECULAR THERAPEUTIC APPROACHES:

Best, H. ; Woodman, K. ; Lek, A....
Neuromuscular Disorders. 29 (2019) - p. S39-S40 , 2019

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

7

An international collaboration applying targeted whole exom..:

Johnson, K. ; Bertoli, M. ; Phillips, L....
Neuromuscular Disorders. 28 (2018) - p. S39 , 2018

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

8

Corrigendum to "A homozygous DPM3 mutation in a patient wit..:

Van den Bergh, P.Y.K. ; Sznajer, Y. ; Van Parys, V....
Neuromuscular Disorders. 28 (2018) 1 - p. 101 , 2018

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

9

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY:

Donkervoort, S. ; Foley, A.R. ; Saade, D....
Neuromuscular Disorders. 28 (2018) - p. S142 , 2018

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

10

Exploring the relationship between α-actinin-3 deficiency a..:

Houweling, P J ; Berman, Y D ; Turner, N...
International Journal of Obesity. 41 (2017) 7 - p. 1154-1157 , 2017

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

11

The MYO-SEQ project: application of exome sequencing techno..:

Johnson, K. ; Bertoli, M. ; Phillips, L....
Neuromuscular Disorders. 27 (2017) - p. S40 , 2017

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

12

A common dominant-negative COL6A1 pseudo-exon insertion is ..:

Bolduc, V. ; Foley, A. ; Donkervoort, S....
Neuromuscular Disorders. 27 (2017) - p. S177 , 2017

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

13

Clinical characterisation of a large international congenit..:

Oates, E.C. ; Yau, K.S. ; Jones, K....
Neuromuscular Disorders. 27 (2017) - p. S37 , 2017

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

14

The MYO-SEQ project: Application of exome sequencing techno..:

Johnson, K. ; Töpf, A. ; Bertoli, M....
Neuromuscular Disorders. 27 (2017) - p. S194 , 2017

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

15

Identification and characterisation of ATP2A1 variants thro..:

Johnson, K. ; Arroyo, A. Martinez ; Zulaica, M....
Neuromuscular Disorders. 27 (2017) - p. S229 , 2017

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