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List of works by Joan C Marini

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

scientific article

Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations

scientific article published on 14 September 2018

Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

scientific article published on 26 May 2017

Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series

scientific article published on 01 November 2019

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction

scientific article published on 22 January 2019

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

scientific article published on 6 July 2016

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

scientific article published on 16 March 2017

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway

scientific article published on 01 May 2020

Somatic activating mutations in MAP2K1 cause melorheostosis.

scientific article published on 11 April 2018

Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia

scientific article published on 26 February 2020

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