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- Journal Article
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CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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- Miscellaneous
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)
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Arterial tortuosity syndrome : 40 new families and literature review
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Arterial tortuosity syndrome : 37 new families and literature review
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Myhre syndrome : broadening the phenotypic spectrum
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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- Journal Article
- A1
- open access
GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts
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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review