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