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Hackman, P.
554
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german (2)
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?
1
P184 Revealing myopathy spectrum: integrating transcription..:
Zhong, H.
;
Johari, M.
;
Katayama, S.
...
Neuromuscular Disorders. 33 (2023) - p. S111 , 2023
Link:
https://doi.org/10.1016/..
?
2
P158 Heterozygous SPTAN1 frameshift mutations cause distal ..:
De Winter, J.
;
Van de Vondel, L.
;
Bonne, G.
...
Neuromuscular Disorders. 33 (2023) - p. S139 , 2023
Link:
https://doi.org/10.1016/..
?
3
P164 Development of a myotube model for C-terminal titin st..:
Sarparanta, J.
;
Jonson, P.
;
Luque, H.
...
Neuromuscular Disorders. 33 (2023) - p. S140-S141 , 2023
Link:
https://doi.org/10.1016/..
?
4
P168 The burden of titin variants on genetic counseling:
Di Feo, M.
;
Topf, A.
;
Matalonga, L.
...
Neuromuscular Disorders. 33 (2023) - p. S107 , 2023
Link:
https://doi.org/10.1016/..
?
5
VP178 Multiomics needed to increase the detection rate of m..:
Owusu, R.
;
Johari, M.
;
Lehtinen, S.
...
Neuromuscular Disorders. 33 (2023) - p. S109-S110 , 2023
Link:
https://doi.org/10.1016/..
?
6
P162 Welander distal myopathy caused by genomic deletion in..:
Jonson, P.
;
Sarparanta, J.
;
Rusanen, S.
...
Neuromuscular Disorders. 33 (2023) - p. S140 , 2023
Link:
https://doi.org/10.1016/..
?
7
P177 Exomiser is an efficient tool to prioritize candidate ..:
Lillback, V.
;
De Feo, M.
;
Johari, M.
...
Neuromuscular Disorders. 33 (2023) - p. S109 , 2023
Link:
https://doi.org/10.1016/..
?
8
VP.69 Natural history of tibial muscular dystrophy:
Kuusinen, V.
;
Savarese, M.
;
Sandholm, N.
..
Neuromuscular Disorders. 32 (2022) - p. S112 , 2022
Link:
https://doi.org/10.1016/..
?
9
VP.68 ACTN2: Mutation Update:
Ranta-aho, J.
;
Olivé, M.
;
Roticiani, G.
...
Neuromuscular Disorders. 32 (2022) - p. S112 , 2022
Link:
https://doi.org/10.1016/..
?
10
FP.31 ANXA11 related adult-onset muscular dystrophy in Gree..:
Johari, M.
;
Papadimas, G.
;
Papadopoulos, C.
...
Neuromuscular Disorders. 32 (2022) - p. S107 , 2022
Link:
https://doi.org/10.1016/..
?
11
P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in ..:
Hackman, P.
;
Välipakka, S.
;
Jonson, P.
...
Neuromuscular Disorders. 32 (2022) - p. S109 , 2022
Link:
https://doi.org/10.1016/..
?
12
DISTAL MYOPATHIES:
Johari, M.
;
Rusanen, S.
;
Savarese, M.
...
Neuromuscular Disorders. 31 (2021) - p. S72 , 2021
Link:
https://doi.org/10.1016/..
?
13
NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS:
Savarese, M.
;
Johari, M.
;
Vihola, A.
...
Neuromuscular Disorders. 31 (2021) - p. S161 , 2021
Link:
https://doi.org/10.1016/..
?
14
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES:
Johari, M.
;
Savarese, M.
;
Jonson, P.
...
Neuromuscular Disorders. 30 (2020) - p. S143 , 2020
Link:
https://doi.org/10.1016/..
?
15
NEW GENES IN NEUROMUSCULAR DISEASES:
Johari, M.
;
Savarese, M.
;
Vihola, A.
...
Neuromuscular Disorders. 30 (2020) - p. S46 , 2020
Link:
https://doi.org/10.1016/..
1-15