E-LIB Suche - Ergebnisse für: Vergult, Sarah

1

Comparative 3D genome analysis between neural retina and re..:

D'haene, Eva ; López-Soriano, Víctor ; Martínez-García, Pedro Manuel...
Genome Biology. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

A distant global control region is essential for normal exp..:

Wilderman, Andrea ; D'haene, Eva ; Baetens, Machteld...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Multi-omics approach dissects cis-regulatory mechanisms und..:

Van de Sompele, Stijn ; Small, Kent W. ; Cicekdal, Munevver Burcu...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2029-2048 , 2022

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

4

Expanding the Phenotype of B3GALNT2-Related Disorders:

D'haenens, Erika ; Vergult, Sarah ; Menten, Björn...
Genes. 13 (2022) 4 - p. 694 , 2022

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

5

Transcriptional and functional consequences of alterations ..:

Mohajeri, Kiana ; Yadav, Rachita ; D'haene, Eva...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2049-2067 , 2022

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

6

HDAC9structural variants disruptingTWIST1transcriptional re..:

Hirsch, Naama ; Dahan, Idit ; D'haene, Eva...
Genome Research. 32 (2022) 7 - p. 1242-1253 , 2022

Link: https://doi.org/10.1101/..

7

Phenotypic spectrum of the RBM10‐mediated intellectual disa..:

Kumps, Candy ; D'haenens, Erika ; Vergult, Sarah...
Clinical Genetics. 99 (2021) 3 - p. 449-456 , 2021

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

8

Interpreting the impact of noncoding structural variation i..:

D'haene, Eva ; Vergult, Sarah
Genetics in Medicine. 23 (2021) 1 - p. 34-46 , 2021

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

9

A Reassessment of Copy Number Variations in Congenital Hear..:

Meerschaut, Ilse ; Vergult, Sarah ; Dheedene, Annelies...
Genes. 12 (2021) 7 - p. 1048 , 2021

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

10

A neuronal enhancer network upstream of MEF2C is compromise..:

D'haene, Eva ; Bar-Yaacov, Reut ; Bariah, Inbar...
Human Molecular Genetics. 29 (2020) 5 - p. 879-880 , 2020

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

11

Expanding the molecular spectrum and the neurological pheno..:

Jacobs, Eva Z. ; Brown, Kathleen ; Byler, Melissa C....
Clinical Genetics. 99 (2020) 2 - p. 259-268 , 2020

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

12

De novo missense variants in RAC3 cause a novel neurodevelo..:

Costain, Gregory ; Callewaert, Bert ; Gabriel, Heinz...
Genetics in Medicine. 21 (2019) 4 - p. 1021-1026 , 2019

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

13

A neuronal enhancer network upstream of MEF2C is compromise..:

D'haene, Eva ; Bar-Yaacov, Reut ; Bariah, Inbar...
Human Molecular Genetics. 28 (2018) 5 - p. 818-827 , 2018

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

14

De novo mutations in MSL3 cause an X-linked syndrome marked..:

DDD Study ; Basilicata, M. Felicia ; Bruel, Ange-Line...
Nature Genetics. 50 (2018) 10 - p. 1442-1451 , 2018

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

15

Severe hepatopathy and neurological deterioration after sta..:

Vantroys, Elise ; Smet, Joél ; Vanlander, Arnaud V....
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..