E-LIB Suche - Ergebnisse für: McTague, Amy

1

Consensus reporting guidelines to address gaps in descripti..:

AlMail, Ali ; Jamjoom, Ahmed ; Pan, Amy...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

2

P249: Gaps in the phenotype descriptions of ultra-rare gene..:

AlMail, Ali ; Jamjoom, Ahmed ; Pan, Amy...
Genetics in Medicine Open. 2 (2024) - p. 101145 , 2024

Link: https://doi.org/10.1016/..

3

Genetic variant interpretation for the neurologist – A prag..:

Fasaludeen, Alfiya ; McTague, Amy ; Jose, Manna...
Epilepsy Research. 201 (2024) - p. 107341 , 2024

Link: https://doi.org/10.1016/..

4

Long-term neuropsychological trajectories in children with ..:

Eriksson, Maria H ; Prentice, Freya ; Piper, Rory J...
Brain. , 2024

Link: https://doi.org/10.1093/..

5

P305: Evaluation of the feasibility, diagnostic yield, and ..:

Yan Liang, Nicole Si ; Costain, Gregory ; D'Gama, Alissa...
Genetics in Medicine Open. 2 (2024) - p. 101201 , 2024

Link: https://doi.org/10.1016/..

6

Predicting seizure outcome after epilepsy surgery: Do we ne..:

Eriksson, Maria H. ; Ripart, Mathilde ; Piper, Rory J....
Epilepsia. 64 (2023) 8 - p. 2014-2026 , 2023

Link: https://doi.org/10.1111/..

7

Pediatric epilepsy surgery from 2000 to 2018: Changes in re..:

Eriksson, Maria H. ; Whitaker, Kirstie J. ; Booth, John...
Epilepsia. 64 (2023) 9 - p. 2260-2273 , 2023

Link: https://doi.org/10.1111/..

8

Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1343-1355 , 2023

Link: https://doi.org/10.1016/..

9

Defining causal variants in rare epilepsies: an essential t..:

McTague, Amy ; Brunklaus, Andreas ; Barcia, Giulia...
European Journal of Medical Genetics. 65 (2022) 7 - p. 104531 , 2022

Link: https://doi.org/10.1016/..

10

Structural mapping of GABRB3 variants reveals genotype–phen..:

Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena...
Genetics in Medicine. 24 (2022) 3 - p. 681-693 , 2022

Link: https://doi.org/10.1016/..

11

Factor associated with the occurrence of epilepsy in autism..:

Zarakoviti, Eleni ; Shafran, Roz ; Skuse, David...
Journal of Autism and Developmental Disorders. 53 (2022) 10 - p. 3873-3890 , 2022

Link: https://doi.org/10.1007/..

12

The gain of function SCN1A disorder spectrum: novel epileps..:

Brunklaus, Andreas ; Brünger, Tobias ; Feng, Tony...
Brain. 145 (2022) 11 - p. 3816-3831 , 2022

Link: https://doi.org/10.1093/..

13

Cerebral Organoids and Antisense Oligonucleotide Therapeuti..:

Lange, Jenny ; Zhou, Haiyan ; McTague, Amy
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

14

Corrigendum to "Epilepsy and developmental disorders: Next ..:

Symonds, Joseph D. ; McTague, Amy
European Journal of Paediatric Neurology. 30 (2021) - p. 170 , 2021

Link: https://doi.org/10.1016/..

15

Correction to: De novo variants in SNAP25 cause an early-on..:

Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia...
Genetics in Medicine. 23 (2021) 4 - p. 796 , 2021

Link: https://doi.org/10.1038/..