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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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A clinical scoring system for congenital contractural arachnodactyly
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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Arterial tortuosity syndrome : 40 new families and literature review
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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
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- Journal Article
- A1
- open access
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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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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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Arterial tortuosity syndrome : 29 novel families
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- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Congenital contractural arachnodactyly