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CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow
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GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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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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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Second hit landscape in BRCA-associated breast cancer
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Study of homologous recombination repair in BRCA2 knockout zebrafish embryos
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations