Publications
Export 2 results:
Author Title [ Year
Filters: Author is Sandaradura, Sarah A and Keyword is Humans [Clear All Filters]
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat 39, 383-388 (2018).