Suchergebnisse - "Sadleir, Lynette"

PubPharm (159)

1

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies : A case report

enthalten in: Epilepsia open | 2024

von Nyaga, D. | Hildebrand, M. | de Valles-Ibáñez, G. | +7

2

The role of copy number variants in the genetic architecture of common familial epilepsies

enthalten in: Epilepsia | 2024

von Epi4K Consortium | Nguyen, J. | Mehaffey, M. | +90

3

Loss of symmetric cell division of apical neural progenitors drivesDENND5A-related developmental and epileptic encephalopathy

enthalten in: bioRxiv.org | 2024

von Banks, E. | Francis, V. | Lin, S. | +81

4

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Banks, E. | Francis, V. | Lin, S. | +82

5

Genotype and phenotype correlation of PHACTR1-related neurological disorders

enthalten in: Journal of medical genetics | 2024

von Xu, Z. | Sadleir, L. | Goel, H. | +9

6

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies : A case report

enthalten in: Epilepsia Open | 2024

von Nyaga, D. | Hildebrand, M. | Valles‐Ibáñez, G. | +7

7

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

enthalten in: bioRxiv.org | 2023

von Robertson, E. | Grinton, B. | Oliver, K. | +7

8

Familial Mesial Temporal Lobe Epilepsy : Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

enthalten in: Annals of neurology | 2023

von Harris, R. | Oliver, K. | Perucca, P. | +18

9

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

enthalten in: bioRxiv.org | 2023

von LaFlamme, C. | Rastin, C. | Sengupta, S. | +49

10

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

enthalten in: medRxiv : the preprint server for health sciences | 2023

von LaFlamme, C. | Rastin, C. | Sengupta, S. | +51

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