Outi Mäkitie

1. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
   2004/11/03 by Eveliina Jakkula, Outi Mäkitie, Malwina Czarny‐Ratajczak +11 · 27 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cell Adhesion Molecules Research #Connective tissue disorders research #Dysplasia #Gene #Genetic heterogeneity #Genetics #Mutation #Mutation testing #Osteochondrodysplasia #Phenotype #Ubiquitin and proteasome pathways
2. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double‐layer patella as a reliable sign
   2003/05/23 by Outi Mäkitie, Ravi Savarirayan, Luisa Bonafé +4 · 62 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Neonatal Respiratory Health Research #Bone health and treatments #Dysplasia #Short stature #Medicine #Patella #Genetics #Anatomy #Biology #Pathology #Internal medicine
3. Vitamin D supplementation in the first 2 years and autism spectrum traits at 6–8 years – a randomized clinical trial
   2026/01/05 by Samuel Sandboge, Vilja Seppälä, Sakari Lintula +7 · 2 voices
   Medicine · Neuroscience · #Autism Spectrum Disorder Research #Maternal Mental Health During Pregnancy and Postpartum #Vitamin D Research Studies