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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 -
Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations