E-LIB Suche - Ergebnisse für: van Eyk, Clare L.

1

Multiomic analysis implicates nuclear hormone receptor sign..:

de Nys, Rebekah ; van Eyk, Clare L. ; Ritchie, Tarin...
Translational Psychiatry. 14 (2024) 1 - p. , 2024

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

2

Compromised transcription-mRNA export factor THOC2 causes R..:

Bhattacharjee, Rudrarup ; Jolly, Lachlan A. ; Corbett, Mark A....
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Heterozygous loss-of-function variants in DOCK4 cause neuro..:

Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret...
Human Genetics. 143 (2024) 3 - p. 455-469 , 2024

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

4

Proteomic analysis of the developing mammalian brain links ..:

de Nys, Rebekah ; Gardner, Alison ; van Eyk, Clare...
Molecular Psychiatry. , 2024

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

5

Macrocephaly and developmental delay caused by missense var..:

Koop, Klaas ; Yuan, Weimin ; Tessadori, Federico...
Human Molecular Genetics. 32 (2023) 21 - p. 3063-3077 , 2023

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

6

Aicardi Syndrome Is a Genetically Heterogeneous Disorder:

Ha, Thuong T. ; Burgess, Rosemary ; Newman, Morgan...
Genes. 14 (2023) 8 - p. 1565 , 2023

Link: https://doi.org/10.3390/..

7

Redefining cerebral palsies as a diverse group of neurodeve..:

van Eyk, Clare L. ; Fahey, Michael C. ; Gecz, Jozef
Nature Reviews Neurology. , 2023

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

8

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María...
Genetics in Medicine. 24 (2022) 11 - p. 2351-2366 , 2022

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

9

Author Correction: Mutations disrupting neuritogenesis gene..:

Jin, Sheng Chih ; Lewis, Sara A. ; Bakhtiari, Somayeh...
Nature Genetics. 53 (2021) 3 - p. 412-412 , 2021

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

10

Mutations disrupting neuritogenesis genes confer risk for c..:

Jin, Sheng Chih ; Lewis, Sara A. ; Bakhtiari, Somayeh...
Nature Genetics. 52 (2020) 10 - p. 1046-1056 , 2020

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

11

Definition and diagnosis of cerebral palsy in genetic studi..:

Pham, Ryan ; Mol, Ben W ; Gecz, Jozef...
Developmental Medicine & Child Neurology. 62 (2020) 9 - p. 1024-1030 , 2020

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

12

Author Correction: Pathogenic copy number variants that aff..:

Corbett, Mark A. ; van Eyk, Clare L. ; Webber, Dani L....
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

13

Non-self mutation: double-stranded RNA elicits antiviral pa..:

Eyk, Clare L van ; Samaraweera, Saumya E ; Scott, Andrew...
Human Molecular Genetics. 28 (2019) 18 - p. 3000-3012 , 2019

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

14

Genetic or Other Causation Should Not Change the Clinical D..:

MacLennan, Alastair H. ; Lewis, Sara ; Moreno-De-Luca, Andres...
Journal of Child Neurology. 34 (2019) 8 - p. 472-476 , 2019

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

15

Pathogenic copy number variants that affect gene expression..:

Corbett, Mark A. ; van Eyk, Clare L. ; Webber, Dani L....
npj Genomic Medicine. 3 (2018) 1 - p. , 2018

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