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Ahonen, Saija J
105
results:
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Online (105)
Mediatypes
Articles (Online) (42)
OpenAccess-fulltext (63)
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english (86)
finnish (1)
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1
P577: Genetic findings in afor cohort of over 1,800 patient..:
Hathaway, Julie
;
Huusko, Johanna
;
Cicerchia, Marcos
...
Genetics in Medicine Open. 2 (2024) - p. 101483 , 2024
Link:
https://doi.org/10.1016/..
?
2
eP359: Diagnostic yield of genetic testing in an unselected..:
Hathaway, Julie
;
Cicerchia, Marcos
;
Tommiska, Johanna
...
Genetics in Medicine. 24 (2022) 3 - p. S225-S226 , 2022
Link:
https://doi.org/10.1016/..
?
3
Glycogen synthase downregulation rescues the amylopectinosi..:
Nitschke, Silvia
;
Sullivan, Mitchell A
;
Mitra, Sharmistha
...
Brain. 145 (2022) 7 - p. 2361-2377 , 2022
Link:
https://doi.org/10.1093/..
?
4
eP358: Genetic findings in a cohort of patients with pulmon..:
Hathaway, Julie
;
Cicerchia, Marcos
;
Tommiska, Johanna
...
Genetics in Medicine. 24 (2022) 3 - p. S224-S225 , 2022
Link:
https://doi.org/10.1016/..
?
5
Clinical and Genetic Findings in 28 American Cocker Spaniel..:
Kaimio, Mirja
;
Malkamäki, Sanna
;
Kaukonen, Maria
...
Journal of Comparative Pathology. 185 (2021) - p. 30-44 , 2021
Link:
https://doi.org/10.1016/..
?
6
Biallelic loss-of-function in NRAP is a cause of recessive ..:
Koskenvuo, Juha W.
;
Saarinen, Inka
;
Ahonen, Saija
...
PLOS ONE. 16 (2021) 2 - p. e0245681 , 2021
Link:
https://doi.org/10.1371/..
?
7
Canine Lafora Disease: An Unstable Repeat Expansion Disorde:
von Klopmann, Thilo
;
Ahonen, Saija
;
Espadas-Santiuste, Irene
...
Life. 11 (2021) 7 - p. 689 , 2021
Link:
https://doi.org/10.3390/..
?
8
Gys1antisense therapy rescues neuropathological bases of mu..:
Ahonen, Saija
;
Nitschke, Silvia
;
Grossman, Tamar R
...
Brain. 144 (2021) 10 - p. 2985-2993 , 2021
Link:
https://doi.org/10.1093/..
?
9
Correction to: Nationwide genetic testing towards eliminati..:
Ahonen, Saija
;
Seath, Ian
;
Rusbridge, Clare
...
Canine Medicine and Genetics. 8 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
10
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP,..:
Heliö, Krista
;
Mäyränpää, Mikko I.
;
Saarinen, Inka
...
Frontiers in Genetics. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
11
Deficient H2A.Z deposition is associated with genesis of ut..:
Berta, Davide G.
;
Kuisma, Heli
;
Välimäki, Niko
...
Nature. 596 (2021) 7872 - p. 398-403 , 2021
Link:
https://doi.org/10.1038/..
?
12
Human cell transformation by combined lineage conversion an..:
Sahu, Biswajyoti
;
Pihlajamaa, Päivi
;
Zhang, Kaiyang
...
Oncogene. 40 (2021) 36 - p. 5533-5547 , 2021
Link:
https://doi.org/10.1038/..
?
13
An inducible glycogen synthase-1 knockout halts but does no..:
Nitschke, Silvia
;
Chown, Erin E.
;
Zhao, Xiaochu
...
Journal of Biological Chemistry. 296 (2021) - p. 100150 , 2021
Link:
https://doi.org/10.1074/..
?
14
Sensitive quantification of α-glucans in mouse tissues, cel..:
Nitschke, Silvia
;
Petković, Sara
;
Ahonen, Saija
..
Journal of Biological Chemistry. 295 (2020) 43 - p. 14698-14709 , 2020
Link:
https://doi.org/10.1074/..
?
15
SUCLA2 Arg407Trp mutation can cause a nonprogressive moveme..:
Alkhater, Reem A.
;
Ahonen, Saija
;
Minassian, Berge A.
Annals of Clinical and Translational Neurology. 8 (2020) 1 - p. 252-258 , 2020
Link:
https://doi.org/10.1002/..
1-15