prof. dr. ir. Kathleen Claes
- ORCID iD
-
0000-0003-0841-7372
Show
Sort by
-
Unmasking NF1 mosaicism : optical genome mapping identifies a novel t(15;17) translocation in melanocytes
-
- Miscellaneous
- open access
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (vol 32, pg 479, 2024)
-
Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)
-
ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum
-
Exploring cfDNA copy number profiles to monitor tumor dynamics in pancreatic adenocarcinoma
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.531-531 -
Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.316-317 -
Multiple European children born with cancer predisposition following recurrent sperm donation from a mosaic TP53 carrier
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.37-37 -
- Journal Article
- A1
- open access
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer
-
- Journal Article
- A1
- open access
Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene
-
- Journal Article
- A1
- open access
EMT‐associated bias in the Parsortix® system observed with pancreatic cancer cell lines