Suchergebnisse - "Moufawad El Achkar, Christelle"

PubPharm (9)

1

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

enthalten in: JAMA network open | 2023

von Koh, H. | Smith, L. | Wiltrout, K. | +61

2

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

enthalten in: Neurology. Genetics | 2022

von Moufawad El Achkar, C. | Rosen, A. | Kessler, S. | +9

3

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit

enthalten in: Molecular psychiatry | 2022

von Hines, D. | Contreras, A. | Garcia, B. | +5

4

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

enthalten in: American journal of human genetics | 2021

von Weng, P. | Majmundar, A. | Khan, K. | +66

5

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

enthalten in: Annals of neurology | 2019

von Burgess, R. | Wang, S. | McTague, A. | +47

ErratumIn: Ann Neurol. 2020 Apr;87(4):658. - PMID 32176372

6

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

enthalten in: The New England journal of medicine | 2019

von Kim, J. | Hu, C. | Moufawad El Achkar, C. | +45

CommentIn: N Engl J Med. 2019 Oct 24;381(17):1678-1680. - PMID 31597016

7

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

enthalten in: Brain : a journal of neurology | 2019

von XiangWei, W. | Kannan, V. | Xu, Y. | +25

8

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

enthalten in: Brain | August 31, 2019

von XiangWei, W. | Kannan, V. | Xu, Y. | +25

9

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

enthalten in: American journal of human genetics | 2018

von Olson, H. | Jean-Marçais, N. | Yang, E. | +55

ErratumIn: Am J Hum Genet. 2018 Oct 4;103(4):631. - PMID 30290155

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