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Sagath, Lydia
23
results:
Search for persons
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Format
Online (23)
Mediatypes
Articles (Online) (9)
OpenAccess-fulltext (14)
Sorted by: Relevance
Sorted by: Year
?
1
A recurrent ACTA1 amino acid change in mosaic form causes m..:
Lehtokari, Vilma-Lotta
;
Sagath, Lydia
;
Davis, Mark
...
Neuromuscular Disorders. 34 (2024) - p. 32-40 , 2024
Link:
https://doi.org/10.1016/..
?
2
Novel Compound Heterozygous Splice-Site Variants in TPM3 Re..:
Pelin, Katarina
;
Sagath, Lydia
;
Lehtonen, Johanna
...
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 977-984 , 2023
Link:
https://doi.org/10.3233/..
?
3
A custom ddPCR method for the detection of copy number vari..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Wallgren-Pettersson, Carina
...
PLOS ONE. 17 (2022) 5 - p. e0267793 , 2022
Link:
https://doi.org/10.1371/..
?
4
Array Comparative Genomic Hybridisation and Droplet Digital..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Pelin, Katarina
.
Genes. 13 (2022) 5 - p. 905 , 2022
Link:
https://doi.org/10.3390/..
?
5
Congenital asymmetric distal myopathy with hemifacial weakn..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Välipakka, Salla
...
Neuromuscular Disorders. 31 (2021) 6 - p. 539-545 , 2021
Link:
https://doi.org/10.1016/..
?
6
Dominantly inherited distal nemaline/cap myopathy caused by..:
Kiiski, Kirsi J.
;
Lehtokari, Vilma-Lotta
;
Vihola, Anna K.
...
Neuromuscular Disorders. 29 (2019) 2 - p. 97-107 , 2019
Link:
https://doi.org/10.1016/..
?
7
An Extended Targeted Copy Number Variation Detection Array ..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Välipakka, Salla
...
Journal of Neuromuscular Diseases. 5 (2018) 3 - p. 307-314 , 2018
Link:
https://doi.org/10.3233/..
?
8
A nebulin super‐repeat panel reveals stronger actin binding..:
Laitila, Jenni
;
Lehtonen, Johanna
;
Lehtokari, Vilma‐Lotta
...
Muscle & Nerve. 59 (2018) 1 - p. 116-121 , 2018
Link:
https://doi.org/10.1002/..
?
9
New mutations found by Next-Generation Sequencing screening..:
Moreau-Le Lan, Sarah
;
Aller, Elena
;
Calabria, Ines
...
PLOS ONE. 13 (2018) 12 - p. e0207296 , 2018
Link:
https://doi.org/10.1371/..
?
10
Novel Compound Heterozygous Splice-Site Variants in TPM3 Re..:
Pelin, Katarina
;
Sagath, Lydia
;
Lehtonen, Johanna
...
10.3233/JND-230026. , 2023
Link:
http://hdl.handle.net/10..
?
11
Novel Compound Heterozygous Splice-Site Variants in TPM3 Re..:
Pelin, Katarina
;
Sagath, Lydia
;
Lehtonen, Johanna
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578209/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
A custom ddPCR method for the detection of copy number vari..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Wallgren-Pettersson, Carina
..
10.1371/journal.pone.0267793. , 2022
Link:
http://hdl.handle.net/10..
?
13
Congenital asymmetric distal myopathy with hemifacial weakn..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Välipakka, Salla
...
10.1016/j.nmd.2021.03.006. , 2022
Link:
http://hdl.handle.net/10..
?
14
Array Comparative Genomic Hybridisation and Droplet Digital..:
Sagath, Lydia
;
Lehtokari, Vilma-Lotta
;
Pelin, Katarina
.
10.3390/genes13050905. , 2022
Link:
http://hdl.handle.net/10..
?
15
Dominantly inherited distal nemaline/cap myopathy caused by..:
Kiiski, Kirsi J
;
Lehtokari, Vilma-Lotta
;
Vihola, Anna K
...
10.1016/j.nmd.2018.12.007. , 2019
Link:
http://hdl.handle.net/10..
1-15