Paul Coucke
Public URL
https://biblio.ugent.be/list/0xoXKQAAyqiNepMElprPsoj4pANBO
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Unraveling phenotypic variability and disease manifestations in brittle bone disorders
(2024) -
Preconceptionele uitgebreide dragerschapsscreening : een genetische test voor koppels met een kinderwens
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- Journal Article
- A1
- open access
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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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 -
- Conference Paper
- C3
- open access
Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis
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Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders
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- Conference Paper
- C3
- open access
Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis Imperfecta
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- Journal Article
- A1
- open access
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variation
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Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI