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Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples
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- Journal Article
- A1
- open access
Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing
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- Journal Article
- A1
- open access
Negative molecular diagnostics in non-syndromic hearing loss : what next?
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Assisted oocyte activation does not overcome recurrent embryo developmental problems
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The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization
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Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI
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- Journal Article
- A1
- open access
Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos
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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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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
Zebrafish Tric-b is required for skeletal development and bone cells differentiation