Outi Mäkitie

Karolinska Institutet

Sweden

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Articles (20)

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2025

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2025

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2025

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2023

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2023

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2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

Collaborators (13)

Mikko Mäyränpää

University of Helsinki

FINLAND

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Saila Laakso

Helsinki University Hospital

FINLAND

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Nadja Fratzl-Zelman

Ludwig Boltzmann Institute of Osteology

AUSTRIA

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Asmat Ullah

UNITED STATES

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Petra Loid

University of Helsinki

FINLAND

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Susann Karlberg

University of Helsinki

FINLAND

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Elisa Holmlund-Suila

Helsinki University Hospital

FINLAND

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Heidi Arponen

University of Helsinki

FINLAND

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Juho Kuula

University of Helsinki

FINLAND

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Helena Hauta-alus

University of Helsinki

FINLAND

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Fulya Taylan

Karolinska Institutet

SWEDEN

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Joonatan Borchers

University of Helsinki

FINLAND

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Maria Enlund-Cerullo

University of Helsinki

FINLAND

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Outi Mäkitie

Research Interests

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Articles (20)

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis

Short Stature and Response to Growth Hormone Treatment in CUL3-Related Neurodevelopmental Disorder

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families

Increased risk of vertebral fractures and reduced risk of femur fractures in patients with chronic hypoparathyroidism

Dental and craniofacial manifestations in sponastrime dysplasia- An observational study

Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial

Preterm birth and risk of bone fractures during childhood and early adulthood

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families

Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study

Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy: a retrospective study

Effects of a 2-year early childhood vitamin D3 intervention on tooth enamel and oral health at age 6-7 years

Alkaline Phosphatase and Hyperphosphatasemia in Vitamin D Trial in Healthy Infants and Toddlers

Bone fragility and osteoporosis in children and young adults

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

Bone mineral density in very low birthweight adults—A sibling study

Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants

Collaborators (13)

Mikko Mäyränpää

Saila Laakso

Nadja Fratzl-Zelman

Asmat Ullah

Petra Loid

Susann Karlberg

Elisa Holmlund-Suila

Heidi Arponen

Juho Kuula

Helena Hauta-alus

Fulya Taylan

Joonatan Borchers

Maria Enlund-Cerullo

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