K. Kiiski

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Vilma‐Lotta Lehtokari, K. Kiiski, Sarah A. Sandaradura et al. · Human Mutation · 2014 · 139 citations · Full text

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

K. Kiiski, Vilma‐Lotta Lehtokari, Anna Vihola et al. · Neuromuscular Disorders · 2018 · 49 citations · Full text

Distal Nemaline/cap Myopathy, Mendelian Disorder, Genetic Disorder +5

Ryanodine receptor type 3 (<i><scp>RYR</scp>3</i>) as a novel gene associated with a myopathy with nemaline bodies

Yalda Nilipour, Shahriar Nafissi, Anton Tjust et al. · European Journal of Neurology · 2018 · 45 citations · Full text

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

K. Kiiski, Vilma‐Lotta Lehtokari, Ari Löytynoja et al. · European Journal of Human Genetics · 2015 · 37 citations · Full text

Neb Triplicate Region, Molecular Biology, Systems Biology

Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

K. Kiiski, L. Laari, Vilma‐Lotta Lehtokari et al. · Neuromuscular Disorders · 2012 · 35 citations

Genetic Analysis, Nemaline Myopathy-causing Genes, Molecular Diagnostic Techniques +14