ClinGenetNews

@ClinGenetNews

CLINICAL GENETICS keeps our readers up-to-date on the latest developments in the field. ClinGenetNews tweets are from the Editors (and not the publisher).

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  1. prije 21 sat

    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.

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  2. 28. sij

    Clinical Genetics Accepted Articles REVIEW. Genetic and epigenetic regulation of abdominal aortic aneurysms by Mangum and Farber.

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  3. 28. sij

    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.

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  4. 21. sij

    Volume 97, Issue 2 of Clinical Genetics. February 2020 is now online at

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  5. 21. sij

    Clinical Genetics Early View SHORT REPORT Confirming the recessive inheritance of PERP‐related erythrokeratoderma by Patel et al.

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  6. 14. sij

    Clinical Genetics Early View SHORT REPORT Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis by López‐Gallardo et al.

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  7. 14. sij

    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.

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  8. 1. sij

    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.

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  9. 1. sij

    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.

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  10. 1. sij

    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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  11. 24. pro 2019.

    Clinical Genetics, Accepted Articles SHORT REPORT Diagnostic strategy for Females suspected of Fabry Disease by Balendran et al.

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  12. 24. pro 2019.

    ....and Merry Christmas, from the Editors, the Editorial Office and Wiley.

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  13. 24. pro 2019.

    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.

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  14. 24. pro 2019.

    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.

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  15. 24. pro 2019.

    Clinical Genetics Early View ORIGINAL ARTICLE Psychological factors that determine people's willingness‐to‐share genetic data for research by Bearth et al.

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  16. 16. pro 2019.

    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.

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  17. 16. pro 2019.

    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.

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  18. 16. pro 2019.

    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.

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  19. 4. pro 2019.

    Clinical Genetics. Early View REVIEW Chromatinopathies: A focus on Cornelia de Lange syndrome by Avagliano  et al.

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  20. 4. pro 2019.

    Clinical Genetics. Early View ORIGINAL ARTICLE X‐linked intellectual disability: Phenotypic expression in carrier females by Ziats et al.

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