E-LIB Suche - Ergebnisse für: Efthymiou, Stephanie

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/..