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List of works by Philip F Giampietro

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita

scientific article published on 08 July 2021

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

scientific article published on 17 January 2020

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years

scientific article published on 17 August 2017

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

scientific article published on 05 May 2020

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

scientific article published in 2022

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

scientific article published on 17 August 2017

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas

scientific article published on 21 November 2017

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

scientific article published on 01 August 2019

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation

scientific article published on 05 January 2020

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