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Bone Diseases, Developmental

Known as: BONE DEVELOPMENT DISORDER, Bone Diseases, Developmental [Disease/Finding], Dysplasias, Bone 
Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
The Real McCoy Some secreted proteins are phosphorylated, the most prominent example being the milk protein casein, but the… 
Review
2011
Review
2011
A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant… 
Review
2010
Review
2010
Study Design. Systematic review. Objective. To review the published literature on the use of pedicle screws in pediatric spinal… 
Highly Cited
2005
Highly Cited
2005
Mutations in distant regulatory elements can have a negative impact on human development and health, yet because of the… 
Highly Cited
2002
Highly Cited
2002
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family… 
Highly Cited
2001
Highly Cited
2001
Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is… 
Highly Cited
2001
Highly Cited
2001
Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority… 
Highly Cited
1999
Highly Cited
1999
Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including…