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News

  • Mar 21, 2019 – Publications

    A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

    Publication by Miriam Schmidts et al. in Frontiers in Pediatrics

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  • Mar 12, 2019 – Publications

    Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

    Publication by Miriam Schmidts, Sebastian Arnold et al. in Human Mutation.

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  • Mar 08, 2019 – Publications

    Synchronizing Protein Traffic to the Primary Cilium

    Publication by Carsten Schwan et al. in Frontiers in Genetics.

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  • Feb 13, 2019 – Publications

    Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

    Publication by Miriam Schmidts et al. in Orphanet Journal of Rare Diseases.

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  • Feb 07, 2019 – Publications

    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

    Publication by Ekkehart Lausch, Miriam Schmidts et al. in JCI Insight.

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