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List of works by Alice Costantini

'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations

scientific article published on 14 August 2019

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

scientific article published on 28 July 2018

A novel frameshift deletion in PLS3 causing severe primary osteoporosis

scientific article published on 08 June 2018

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

scientific article published on 23 March 2018

Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23

scientific article published on 22 January 2020

Exome sequencing reveals a phenotype modifying variant in ZNF528 in primary osteoporosis with a COL1A2 deletion

scientific article published on 28 July 2020

Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia

scientific article published on 11 September 2020

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

scientific article published on 26 June 2020

Unique, gender-dependent serum microRNA profile in PLS3 gene-related osteoporosis

scientific article published on 26 May 2020

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