Minna H. Pekkinen
Helsinki, Finland
Last Updated: 09/26/2026
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Found 49 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
Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients.
Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients.
Journal: Frontiers in endocrinology
Published: October 06, 2025
Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome.
Journal: JBMR plus
Published: May 26, 2025
A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family.
Journal: JBMR plus
Published: October 31, 2024
A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.
Journal: Hormone research in paediatrics
Published: March 04, 2024
A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.
Journal: Hormone research in paediatrics
Published: March 04, 2024
SGMS2 in primary osteoporosis with facial nerve palsy.
Journal: Frontiers in endocrinology
Published: May 25, 2023
A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells.
Journal: Frontiers in molecular biosciences
Published: August 30, 2022
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity.
Journal: Frontiers in genetics
Published: December 19, 2021
Last Updated: 09/26/2026