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List of works by Caroline Joyce

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

scientific article published on 28 September 2020

Biallelic CYP24A1 variants presenting in pregnancy: clinical/biochemical phenotypes

scientific article published on 01 May 2020

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

scientific article published on 6 December 2018

First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene

scientific article published on 16 September 2013

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

scientific article published on 23 April 2020

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)

scientific article

Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.

scientific article

The Incidence of Transient Infantile Pseudohypoaldosteronism in Ireland: a prospective study

scientific article published on 27 November 2020

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

scientific article

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