E-LIB Suche - Ergebnisse für: Ahonen, Saija J.

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

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

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

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/..

12

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/..

13

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/..

14

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/..

15

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/..