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List of works by Kathleen M Loomes

Characterization of Notch receptor expression in the developing mammalian heart and liver

scientific article published in October 2002

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

scientific article published on 24 December 2015

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

scientific article published on 03 March 2015

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

scientific article published on 21 April 2015

Notch1 and Jagged1 expression by the developing pulmonary vasculature

scientific article published in October 2002

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

scientific article published on 09 October 2013

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

scientific article published on 26 May 2016

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