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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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- Journal Article
- A1
- open access
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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- Journal Article
- A1
- open access
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.472-472 -
- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis