E-LIB Suche - Ergebnisse für: El Achkar, Christelle Moufawad

1

KCTD7‐related progressive myoclonic epilepsy: Report of 42 ..:

Yoganathan, Sangeetha ; Whitney, Robyn ; Thomas, Maya...
Epilepsia. 65 (2024) 3 - p. 709-724 , 2024

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

2

A framework for individualized splice-switching oligonucleo..:

Kim, Jinkuk ; Woo, Sijae ; de Gusmao, Claudio M....
Nature. 619 (2023) 7971 - p. 828-836 , 2023

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

3

The ClinGen Brain Malformation Variant Curation Expert Pane..:

Lai, Abbe ; Soucy, Aubrie ; El Achkar, Christelle Moufawad...
Genetics in Medicine. 24 (2022) 11 - p. 2240-2248 , 2022

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

4

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3516-3524 , 2022

Link: https://doi.org/10.1002/..

5

Clinical Reasoning: A 6-week-old infant with migrating foca..:

Bushlin, Ittai ; Smith, Lacey ; Peters, Jurriaan M..
Neurology. 94 (2020) 4 - p. 178-183 , 2020

Link: https://doi.org/10.1212/..

6

Compound heterozygosity with PRRT2: Pushing the phenotypic ..:

El Achkar, Christelle Moufawad ; Rosen Sheidley, Beth ; O'Rourke, Declan..
Epilepsy & Behavior Case Reports. 11 (2019) - p. 125-128 , 2019

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

7

Recurrent SLC1A2 variants cause epilepsy via a dominant neg..:

Stergachis, Andrew B. ; Pujol‐Giménez, Jonai ; Gyimesi, Gergely...
Annals of Neurology. 85 (2019) 6 - p. 921-926 , 2019

Link: https://doi.org/10.1002/..

8

Characterization of a novel variant in siblings with Aspara..:

Sacharow, Stephanie J. ; Dudenhausen, Elizabeth E. ; Lomelino, Carrie L....
Molecular Genetics and Metabolism. 123 (2018) 3 - p. 317-325 , 2018

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

9

De Novo TUBB2A Variant Presenting With Anterior Temporal Pa..:

Rodan, Lance H. ; El Achkar, Christelle Moufawad ; Berry, Gerard T....
Journal of Child Neurology. 32 (2016) 1 - p. 127-131 , 2016

Link: https://doi.org/10.1177/..

10

Genetic and phenotypic diversity of NHE6 mutations in Chris..:

Pescosolido, Matthew F. ; Stein, David M. ; Schmidt, Michael...
Annals of Neurology. 76 (2014) 4 - p. 581-593 , 2014

Link: https://doi.org/10.1002/..

11

Cerebral Palsy Phenotypes in Genetic Epilepsies:

Srivastava, Siddharth ; Koh, Hyun Yong ; Smith, Lacey...
Pediatric Neurology. 157 (2024) - p. 79-86 , 2024

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

12

Human ARHGEF9 intellectual disability syndrome is phenocopi..:

Hines, Dustin J. ; Contreras, April ; Garcia, Betsua...
Molecular Psychiatry. 27 (2022) 3 - p. 1275-1275 , 2022

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

13

Human ARHGEF9 intellectual disability syndrome is phenocopi..:

Hines, Dustin J. ; Contreras, April ; Garcia, Betsua...
Molecular Psychiatry. 27 (2022) 3 - p. 1729-1741 , 2022

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

14

Heterogeneous clinical and functional features of GRIN2D-re..:

XiangWei, Wenshu ; Kannan, Varun ; Xu, Yuchen...
Brain. 142 (2019) 10 - p. 3009-3027 , 2019

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

15

A Recurrent De Novo PACS2 Heterozygous Missense Variant Cau..:

Olson, Heather E. ; Jean-Marçais, Nolwenn ; Yang, Edward...
The American Journal of Human Genetics. 102 (2018) 5 - p. 995-1007 , 2018

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