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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
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
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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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