Publications
Export 4 results:
Author Title [ Year![(Asc)](http://mendelian.org/sites/all/modules/biblio/misc/arrow-asc.png)
Filters: Author is Topf, Ana and Keyword is Mutation [Clear All Filters]
Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features. Genes (Basel) 11, (2020).
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscul Disord 27, 861-872 (2017).
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).