Publications

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2020
Jones, L. K. et al. A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development 147, (2020).
2018
Sandaradura, S. A. et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat 39, 383-388 (2018).