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Efthymiou, Stephanie
359
results:
Search for persons
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Online (359)
Mediatypes
Articles (Online) (108)
Bookchapter (Online) (1)
OpenAccess-fulltext (250)
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?
1
Alternative splicing expands the clinical spectrum of NDUFS..:
Armirola-Ricaurte, Camila
;
Zonnekein, Noortje
;
Koutsis, Georgios
...
Genetics in Medicine. 26 (2024) 6 - p. 101117 , 2024
Link:
https://doi.org/10.1016/..
?
2
Human mutations in SLITRK3 implicated in GABAergic synapse ..:
Efthymiou, Stephanie
;
Han, Wenyan
;
Ilyas, Muhammad
...
Frontiers in Molecular Neuroscience. 17 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
Bi-allelic genetic variants in the translational GTPases GT..:
Salpietro, Vincenzo
;
Maroofian, Reza
;
Zaki, Maha S.
...
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024
Link:
https://doi.org/10.1016/..
?
4
ZSCAN10 deficiency causes a neurodevelopmental disorder wit..:
Laugwitz, Lucia
;
Cheng, Fubo
;
Collins, Stephan C
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
5
The first genetically confirmed cohort of Facioscapulohumer..:
Vishnu, Venugopalan Y.
;
Lemmers, Richard J. L. F.
;
Reyaz, Alisha
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
6
Clinical and molecular heterogeneity of VPS13D-related neur..:
Sultan, Tipu
;
Scorrano, Giovanna
;
Panciroli, Marta
...
Gene. 899 (2024) - p. 148119 , 2024
Link:
https://doi.org/10.1016/..
?
7
Whole exome sequencing identifies variable expressivity of ..:
Ilyas, Muhammad
;
Tariq, Faiza
;
Ishaq, Rafaqat
...
Epilepsy Research. 201 (2024) - p. 107283 , 2024
Link:
https://doi.org/10.1016/..
?
8
Letter to the editor on: Hornerin deposits in neuronal intr..:
Luo, Huihui
;
Gustavsson, Emil K.
;
Macpherson, Hannah
...
Acta Neuropathologica Communications. 12 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
9
Neuroinflammation and Lysosomal Abnormalities Characterise ..:
Bucknor, Eboni M. V.
;
Johnson, Errin
;
Efthymiou, Stephanie
...
Antioxidants. 13 (2024) 6 - p. 685 , 2024
Link:
https://doi.org/10.3390/..
?
10
Novel loss-of-function variants expand ABCC9-related intell..:
Efthymiou, Stephanie
;
Scala, Marcello
;
Nagaraj, Vini
...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024
Link:
https://doi.org/10.1093/..
?
11
Expanding the phenotype of PPP1R21‐related neurodevelopment..:
Almannai, Mohammed
;
Marafi, Dana
;
Zaki, Maha S.
...
Clinical Genetics. 105 (2024) 6 - p. 620-629 , 2024
Link:
https://doi.org/10.1111/..
?
12
Loss of TBC1D2B causes a progressive neurological disorder ..:
Harms, Frederike L.
;
Rexach, Jessica Erin
;
Efthymiou, Stephanie
...
European Journal of Human Genetics. 32 (2024) 5 - p. 558-566 , 2024
Link:
https://doi.org/10.1038/..
?
13
Biallelic NAA60 variants with impaired N-terminal acetylati..:
Chelban, Viorica
;
Aksnes, Henriette
;
Maroofian, Reza
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
14
Neuromuscular disease genetics in under-represented populat..:
Wilson, Lindsay A
;
Macken, William L
;
Perry, Luke D
...
Brain. 146 (2023) 12 - p. 5098-5109 , 2023
Link:
https://doi.org/10.1093/..
?
15
Expanding SPTAN1 monoallelic variant associated disorders: ..:
Morsy, Heba
;
Benkirane, Mehdi
;
Cali, Elisa
...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023
Link:
https://doi.org/10.1016/..
1-15