Outi Mäkitie

Glucose Regulation in Young Adults with Very Low Birth Weight

Petteri Hovi, Sture Andersson, Johan G. Eriksson et al. · New England Journal of Medicine · 2007 · 519 citations · Full text

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin et al. · Cell · 2001 · 509 citations

Cartilage-hair Hypoplasia, Genetics, Rna Biology +10

<i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau et al. · New England Journal of Medicine · 2013 · 347 citations · Full text

Bone Disease, Early-onset Osteoporosis, Developmental Biology +11

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Craig F. Munns, Nick Shaw, Máiréad Kiely et al. · Hormone Research in Paediatrics · 2016 · 345 citations · Full text

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert Mortier et al. · American Journal of Medical Genetics Part A · 2023 · 318 citations · Full text