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8 results on '"Westphal, Dominik S."'

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1. Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

4. Monogenic variants in dystonia: an exome-wide sequencing study

5. A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions

7. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

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