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Journal of Medical Genetics - A leading BMJ journal for …

    https://jmg.bmj.com/
    Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest …

Recurrent, founder and hypomorphic variants contribute …

    https://jmg.bmj.com/content/early/2023/02/13/jmg-2022-108725
    Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 …

Long-term multisystemic efficacy of migalastat on Fabry …

    https://jmg.bmj.com/content/early/2023/02/13/jmg-2022-108669
    Background Fabry disease is a rare, multisystemic disorder caused by GLA gene variants that lead to alpha galactosidase A deficiency, resulting in accumulation of …

Journal of Medical Genetics Learning Hub | Journal of Medical …

    https://bmjjournals-chicken.bmj.com/jmg/journal-of-medical-genetics-learning-hub/
    A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease.

Health and nutrition claims for infant formula: …

    https://www.bmj.com/content/380/bmj-2022-071075
    Objectives To review available health and nutrition claims for infant formula products in multiple countries and to evaluate the validity of the evidence used for …



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