Spontaneous spinal CSF leaks : a rare variant exome sequencing study and functional analysis
Source
The lancet neurology - ISSN 1474-4422-25:7 (2026) p. 664-672
An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome
Source
Drug discovery today - ISSN 1359-6446-29:7 (2024) p. 1-12
Investigation of strategies to block downstream effectors of AT1R-mediated signalling to prevent aneurysm formation in Marfan syndrome
Source
International journal of molecular sciences - ISSN 1661-6596-25:9 (2024) p. 1-12
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
Source
Stem cell research - ISSN 1873-5061-69 (2023) p. 1-5
Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p. Cys1791Tyr) variant
Source
Stem cell research - ISSN 1873-5061-68 (2023) p. 1-4