prof. dr. Paul Coucke
- ORCID iD
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0000-0001-7119-586X
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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease
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Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant
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Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example
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- Journal Article
- A1
- open access
Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review
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- Journal Article
- A1
- open access
Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model
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- Journal Article
- A2
- open access
Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility
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An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome
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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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Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples