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List of works by Edward D Esplin

46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly

scientific article

Alterations of the PPP2R1B Gene in Human Lung and Colon Cancer ⬇️

scientific article published on October 9, 1998

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome

scientific article published on 01 April 2018

Conflicts of interest in genetic counseling: addressing and delivering.

scientific article published on 4 January 2018

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

scientific article published on 23 April 2013

Genomic era diagnosis and management of hereditary and sporadic colon cancer.

scientific article

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

scientific article published on 06 May 2014

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome

scientific article published on 22 September 2014

Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease.

scientific article

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