Elin Tonne
Oslo, Norway
Last Updated: 09/26/2026
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Found 8 publications
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Journal: Human genetics
Published: May 19, 2022
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
Journal: American journal of medical genetics. Part A
Published: September 29, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Journal: American journal of human genetics
Published: January 20, 2021
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Journal: European journal of human genetics : EJHG
Published: June 08, 2020
Epidemiology of craniosynostosis in Norway.
Journal: Journal of neurosurgery. Pediatrics
Published: January 21, 2020
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 02, 2019
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report.
Journal: World journal of surgical oncology
Published: December 16, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
Journal: European journal of human genetics : EJHG
Published: September 23, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026