- ORCID iD
- 0000-0001-7194-6651
Show
Sort by
-
- Journal Article
- open access
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress
-
- Journal Article
- open access
Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development
-
Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
-
- Journal Article
- A1
- open access
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
-
- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
-
- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
-
Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
(2022) -
- Journal Article
- A2
- open access
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
-
- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization