Johanna Lehtonen
Helsinki, Finland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.
Journal: Journal of medical genetics
Published: October 29, 2025
Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.
Journal: Human molecular genetics
Published: April 22, 2024
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
Journal: Journal of neuromuscular diseases
Published: July 02, 2023
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Journal: Scientific reports
Published: March 16, 2023
Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation.
Journal: Neurology. Genetics
Published: August 13, 2020
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Journal: The Journal of allergy and clinical immunology
Published: June 22, 2020
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Journal: Journal of clinical immunology
Published: May 23, 2020
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Journal: American journal of medical genetics. Part A
Published: February 21, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026