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Clinical Genetics Early View ORIGINAL ARTICLE Open Access Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction by Panneman et al.https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13706?campaign=wolearlyview …
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Clinical Genetics Accepted Articles REVIEW. Genetic and epigenetic regulation of abdominal aortic aneurysms by Mangum and Farber.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13705?campaign=wolacceptedarticle …
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Clinical Genetics Accepted Articles ORIGINAL ARTICLE Open Access Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction by Panneman et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13706?campaign=wolacceptedarticle …
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Volume 97, Issue 2 of Clinical Genetics. February 2020 is now online athttps://onlinelibrary.wiley.com/toc/13990004/2020/97/2?campaign=woletoc …
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Clinical Genetics Early View SHORT REPORT Confirming the recessive inheritance of PERP‐related erythrokeratoderma by Patel et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13699?campaign=wolearlyview …
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Clinical Genetics Early View SHORT REPORT Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis by López‐Gallardo et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13701?campaign=wolearlyview …
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Clinical Genetics Early View REVIEW Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies by María Isabel Tejada and Nekane Ibarluzea.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13698?campaign=wolearlyview …
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Clinical Genetics, Early View SHORT REPORT VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features by Beetz et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13690?campaign=wolearlyview …
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Clinical Genetics Early View INVITED REVIEW Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes? By Page et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13685?campaign=wolearlyview …
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The Editors of Clinical Genetics, the Editorial Office and Wiley wish you a Happy New Year. All the best for 2020!
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Clinical Genetics, Accepted Articles SHORT REPORT Diagnostic strategy for Females suspected of Fabry Disease by Balendran et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13694?campaign=wolacceptedarticle …
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....and Merry Christmas, from the Editors, the Editorial Office and Wiley.
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Clinical Genetics, Accepted Articles SHORT REPORT VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features by Beetz et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13690?campaign=wolacceptedarticle …
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Clinical Genetics, Accepted Articles SHORT REPORT New evidence that bi‐allelic loss of function in EEF1B2 gene leads to intellectual disability by Larcher et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13688?campaign=wolacceptedarticle …
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Clinical Genetics Early View ORIGINAL ARTICLE Psychological factors that determine people's willingness‐to‐share genetic data for research by Bearth et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13686?campaign=wolearlyview …
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Clinical Genetics Early View ORIGINAL ARTICLE Open Access Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy by Bauwens et al.https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13673?campaign=wolearlyview …
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Clinical Genetics Early View ORIGINAL ARTICLE Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules by Castellanos et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13649?campaign=wolearlyview …
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Clinical Genetics Early View ORIGINAL ARTICLE COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap by Morlino et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13683?campaign=wolearlyview …
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Clinical Genetics. Early View REVIEW Chromatinopathies: A focus on Cornelia de Lange syndrome by Avagliano et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13674?campaign=wolearlyview …
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Clinical Genetics. Early View ORIGINAL ARTICLE X‐linked intellectual disability: Phenotypic expression in carrier females by Ziats et al.https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13667?campaign=wolearlyview …
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