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3. Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene. Issue 12 (19th September 2020)

4. Ghrelin‐mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease. (8th April 2019)

5. The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease. (17th November 2017)

6. Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. (13th January 2014)