Katarina Pelin

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

Ari Löytynoja, Vilma-Lotta Lehtokari, A. Löytynoja, 2015, European Journal of Human Genetics.