Outi Mäkitie

机构：Karolinska University Hospital, University of Helsinki, Helsinki University Hospital, Karolinska Institutet, Helsinki Children's Hospital, Folkhälsans Forskningscentrum, Hospital District of Helsinki and Uusimaa · ORCID：0000-0002-4547-001X

发表论文 580 篇 · 总被引 17865 次 · h-index 67

代表论文

• Increased risk of vertebral fractures and reduced risk of femur fractures in patients with chronic hypoparathyroidism: a nationwide cohort study in Sweden (2025 · Journal of Bone and Mineral Research · 被引 14)
• EndoCompass project: research roadmap for calcium and bone endocrinology (2025 · European Journal of Endocrinology · 被引 4)
• Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families (2025 · Journal of Medical Genetics · 被引 4)
• PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia (2025 · Journal of Clinical Investigation · 被引 3)
• Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome (2025 · JBMR Plus · 被引 2)
• Preterm birth and risk of bone fractures during childhood and early adulthood (2025 · Journal of Bone and Mineral Research · 被引 2)