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Hjartarson, Helgi Thor
24
results:
Search for persons
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Format
Online (24)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (9)
Sorted by: Relevance
Sorted by: Year
?
1
Phenotypic variability in a large kindred with spastic para..:
Hjartarson, Helgi Thor
;
Skott, Humberto
;
Granberg, Tobias
.
eNeurologicalSci. 35 (2024) - p. 100497 , 2024
Link:
https://doi.org/10.1016/..
?
2
Genome sequencing with comprehensive variant calling identi..:
Ek, Marlene
;
Nilsson, Daniel
;
Engvall, Martin
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
3
Disease Modifying Therapies for the Management of Children ..:
Hjartarson, Helgi Thor
;
Nathorst-Böös, Kristofer
;
Sejersen, Thomas
Drug Design, Development and Therapy. 16 (2022) - p. 1865-1883 , 2022
Link:
https://doi.org/10.2147/..
?
4
Goltz syndrome in males: A clinical report of a male patien..:
Frisk, Sofia
;
Grandpeix‐Guyodo, Catherine
;
Popovic Silwerfeldt, Karin
...
Clinical Case Reports. 6 (2018) 11 - p. 2103-2110 , 2018
Link:
https://doi.org/10.1002/..
?
5
Intrathecal baclofen treatment an option in X-linked adreno..:
Hjartarson, Helgi Thor
;
Ehrstedt, Christoffer
;
Tedroff, Kristina
European Journal of Paediatric Neurology. 22 (2018) 1 - p. 178-181 , 2018
Link:
https://doi.org/10.1016/..
?
6
Genome sequencing with comprehensive variant calling identi..:
Ek, Marlene
;
Nilsson, Daniel
;
Engvall, Martin
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234573/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
7
Disease Modifying Therapies for the Management of Children ..:
Hjartarson, Helgi Thor
;
Nathorst-Böös, Kristofer
;
Sejersen, Thomas
info:eu-repo/semantics/altIdentifier/doi/10.2147/DDDT.S214174. , 2022
Link:
https://www.dovepress.co..
?
8
Disease Modifying Therapies for the Management of Children ..:
Hjartarson, Helgi Thor
;
Nathorst-Böös, Kristofer
;
Sejersen, Thomas
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208376/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
9
Goltz syndrome in males: A clinical report of a male patien..:
Frisk, Sofia
;
Grandpeix‐Guyodo, Catherine
;
Popovic Silwerfeldt, Karin
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230642/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
10
Table_4_Genome sequencing with comprehensive variant callin..:
Marlene Ek
;
Daniel Nilsson
;
Martin Engvall
...
doi:10.3389/fneur.2023.1170005.s004. , 2023
Link:
https://doi.org/10.3389/..
?
11
Genome sequencing with comprehensive variant calling identi..:
Marlene Ek
;
Daniel Nilsson
;
Martin Engvall
...
https://www.frontiersin.org/articles/10.3389/fneur.2023.1170005/full. , 2023
Link:
https://doi.org/10.3389/..
?
12
Table_2_Genome sequencing with comprehensive variant callin..:
Marlene Ek
;
Daniel Nilsson
;
Martin Engvall
...
doi:10.3389/fneur.2023.1170005.s002. , 2023
Link:
https://doi.org/10.3389/..
?
13
Table_3_Genome sequencing with comprehensive variant callin..:
Marlene Ek
;
Daniel Nilsson
;
Martin Engvall
...
doi:10.3389/fneur.2023.1170005.s003. , 2023
Link:
https://doi.org/10.3389/..
?
14
Table_1_Genome sequencing with comprehensive variant callin..:
Marlene Ek
;
Daniel Nilsson
;
Martin Engvall
...
doi:10.3389/fneur.2023.1170005.s001. , 2023
Link:
https://doi.org/10.3389/..
?
15
International multidisciplinary collaboration toward an ann..:
Dahan‐Oliel, Noémi
;
Cachecho, Sarah
;
Barnes, Douglas
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 3 - p. 288-299 , 2019
Link:
https://doi.org/10.1002/..
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