prof. dr. Paul Coucke
- ORCID iD
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0000-0001-7119-586X
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Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing
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- Journal Article
- A1
- open access
High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI
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Preconceptionele uitgebreide dragerschapsscreening : een genetische test voor koppels met een kinderwens
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Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.394-394 -
The Abcc6a knockout zebrafish model as a novel tool for drug screening for pseudoxanthoma elasticum
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.665-666 -
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.388-389 -
Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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- Journal Article
- A1
- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders
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Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI