Salla Valipakka
Helsinki, Finland
Last Updated: 09/26/2026
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Found 9 publications
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.
Journal: Neuromuscular disorders : NMD
Published: September 25, 2020
Genotype-phenotype correlations in recessive titinopathies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 30, 2020
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
Journal: Journal of neuromuscular diseases
Published: March 17, 2020
Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.
Journal: The Journal of molecular diagnostics : JMD
Published: April 01, 2019
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Journal: Journal of neurology
Published: August 23, 2018
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.
Journal: Journal of neuromuscular diseases
Published: July 25, 2018
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.
Journal: Neurology
Published: June 25, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Journal: Neurology. Genetics
Published: August 22, 2017
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Journal: British journal of cancer
Published: February 09, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026