Mar 21, 2019 – PublicationsA 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle EastPublication by Miriam Schmidts et al. in Frontiers in Pediatricsread more...
Mar 12, 2019 – PublicationsBiallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionPublication by Miriam Schmidts, Sebastian Arnold et al. in Human Mutation.read more...
Mar 08, 2019 – PublicationsSynchronizing Protein Traffic to the Primary CiliumPublication by Carsten Schwan et al. in Frontiers in Genetics.read more...
Feb 13, 2019 – PublicationsMimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosisPublication by Miriam Schmidts et al. in Orphanet Journal of Rare Diseases.read more...
Feb 07, 2019 – PublicationsHypomorphic mutations of TRIP11 cause odontochondrodysplasiaPublication by Ekkehart Lausch, Miriam Schmidts et al. in JCI Insight.read more...
