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Hackman, P.
554  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in ..: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/..
 
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11

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/..
 
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12

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/..
 
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13

DISTAL MYOPATHIES:

Johari, M. ; Rusanen, S. ; Savarese, M....
Neuromuscular Disorders.  31 (2021)  - p. S72 , 2021
Link: https://doi.org/10.1016/..
 
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14

NEW GENES IN NEUROMUSCULAR DISEASES:

Johari, M. ; Savarese, M. ; Vihola, A....
Neuromuscular Disorders.  30 (2020)  - p. S46 , 2020
Link: https://doi.org/10.1016/..
 
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15

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/..
 
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