Show
Sort by
-
A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
-
- Conference Paper
- C3
- open access
TLX1 controlled long non-coding RNAs in T-cell acute lymphoblastic leukemia
-
TBX2 is implicated in cell cycle control and proliferation in neuroblastoma
-
The MEF2C regulatory network is disrupted in patients with Rett-like characteristics
-
Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
-
- Conference Paper
- C3
- open access
Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation
-
Zipper plot : visualizing transcriptional activity of genomic regions
-
Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
-
Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
-
Incidental or secondary findings : a dual bottom-up approach to the terminological debate
-
Generation and validation of the first complete knockout model of abcc6a in zebrafish
-
Uncovering the role of zebrafish in atm
-
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
-
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
-
Comprehensive pharmacological profiling in neuroblastoma cell lines using Deep Coverage Microscopy (DCM)
-
CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
-
Non-invasive differential diagnosis of neuroblastoma with other paediatric solid tumors using methylation profiling of circulating cell-free DNA
-
Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification
-
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
-
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes