E-LIB Suche - Ergebnisse für: van Haaften, Gijs

1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

Link: https://doi.org/10.1172/..

2

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024

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

3

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a ..:

Créton, Marijn ; Wagener, Frank ; Massink, Maarten...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1083-1088 , 2023

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

4

PB1706: ABL-CLASS GENOMIC BREAKPOINT Q-PCR FOR RELIABLE MEA..:

Outersterp, Inge van ; Velden, Vincent van der ; Hoogeveen, Patricia...
HemaSphere. 7 (2023) S3 - p. e4604626 , 2023

Link: https://doi.org/10.1097/..

5

CRISPR‐Cas9 enrichment, a new strategy in microbial metagen..:

Sandoval‐Quintana, Eva ; Stangl, Christina ; Huang, Lionel...
Molecular Ecology Resources. 23 (2023) 6 - p. 1288-1298 , 2023

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

6

WEE1 inhibitor adavosertib in combination with carboplatin ..:

Embaby, Alaa ; Kutzera, Joachim ; Geenen, Jill J....
Gynecologic Oncology. 174 (2023) - p. 239-246 , 2023

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

7

ABL-class Genomic Breakpoint Q-PCR: A Patient-specific Appr..:

van Outersterp, Inge ; van der Velden, Vincent H.J. ; Hoogeveen, Patricia G....
HemaSphere. 7 (2023) 10 - p. e967 , 2023

Link: https://doi.org/10.1097/..

8

Lymphedema as first clinical presentation of Cantu Syndrome..:

Gao, Jian ; McClenaghan, Conor ; Christiaans, Imke...
European Journal of Human Genetics. 31 (2022) 2 - p. 188-194 , 2022

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

9

Familial Occurrence of Adult Granulosa Cell Tumors: Analysi..:

Roze, Joline F. ; Kutzera, Joachim ; Koole, Wouter...
Cancers. 13 (2021) 10 - p. 2430 , 2021

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

10

Drug Repurposing for Rare Diseases:

Roessler, Helen I. ; Knoers, Nine V.A.M. ; van Haelst, Mieke M..
Trends in Pharmacological Sciences. 42 (2021) 4 - p. 255-267 , 2021

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

11

NAA80 bi-allelic missense variants result in high-frequency..:

Muffels, Irena J J ; Wiame, Elsa ; Fuchs, Sabine A...
Brain Communications. 3 (2021) 4 - p. , 2021

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

12

Behavioral and cognitive functioning in individuals with Ca..:

Roessler, Helen I. ; van der Heuvel, Lieke M. ; Shields, Kathleen...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2434-2444 , 2021

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

13

New insights in phenotype and treatment of lung disease imm..:

Willemse, Brigitte W. M. ; van der Crabben, Saskia N. ; Kerstjens-Frederikse, Wilhelmina S....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

14

ATP‐sensitive potassium channels in zebrafish cardiac and v..:

Singareddy, Soma S. ; Roessler, Helen I. ; McClenaghan, Conor...
The Journal of Physiology. 600 (2021) 2 - p. 299-312 , 2021

Link: https://doi.org/10.1113/..

15

In Vitro Systematic Drug Testing Reveals Carboplatin, Pacli..:

Roze, Joline ; Sendino Garví, Elena ; Stelloo, Ellen...
Cancers. 13 (2021) 3 - p. 368 , 2021

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