Manuela Oppo

Manuela Oppo

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Manuela Oppo

Manuela Oppo

Publications by authors named "Manuela Oppo"

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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Am J Med Genet A 2019 04 8;179(4):634-638. Epub 2019 Feb 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (CA), Italy.

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http://dx.doi.org/10.1002/ajmg.a.61052DOI Listing
April 2019

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Bone 2018 09 19;114:125-136. Epub 2018 Jun 19.

Humanitas Clinical and Research Institute, via Manzoni 113, 20089 Rozzano, Italy; CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.06.013DOI Listing
September 2018

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.

J Bone Miner Res 2017 01 7;32(1):99-105. Epub 2016 Sep 7.

Humanitas Clinical and Research Institute, Rozzano, Italy.

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http://dx.doi.org/10.1002/jbmr.2929DOI Listing
January 2017