Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
Source
Frontiers in genetics - ISSN 1664-8021-14 (2023) p. 1-7
Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation
Source
Stem cell research - ISSN 1873-5061-69 (2023) p. 1-5
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
Source
Stem cell research - ISSN 1873-5061-69 (2023) p. 1-5
Structural genomic variants in thoracic aortic disease
Source
Current opinion in cardiology - ISSN 0268-4705-38:3 (2023) p. 157-161
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
Source
Stem cell research - ISSN 1873-5061-67 (2023) p. 1-5