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List of works by Amy Calhoun

Academia, advocacy, and industry: a collaborative method for clinical research advancement

scientific article published on 03 April 2014

Biochemical abnormalities in Pearson syndrome.

scientific article

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

scientific article published on 13 October 2016

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

scientific article published on 8 January 2016

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature

scientific article published on 09 July 2014

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

scientific article published on 13 February 2018

Next generation sequencing in endocrine practice

scientific article

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum

scientific article published on 24 March 2014

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature

scientific article published on 05 October 2018

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

scientific article published in June 2012

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

scientific article

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