Susann Karlberg
Helsinki, Finland
Last Updated: 09/26/2026
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Found 8 publications
Cumulative microscopy reveals cellular states in fibroblasts from patients with genetic disorders.
Journal: EMBO reports
Published: January 27, 2026
Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.
Journal: Journal of medical genetics
Published: October 29, 2025
Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Journal: Clinical genetics
Published: August 23, 2024
Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: November 11, 2021
Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism.
Journal: Pediatric pulmonology
Published: April 05, 2019
Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.
Journal: Human reproduction (Oxford, England)
Published: December 21, 2017
Renal findings in patients with Mulibrey nanism.
Journal: Pediatric nephrology (Berlin, Germany)
Published: October 13, 2016
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Last Updated: 09/26/2026