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List of works by Isabella Giovannoni

Alpha-1-antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human.

scientific article

Bile salt export pump deficiency: A de novo mutation in a child compound heterozygous for ABCB11. Laboratory investigation to study pathogenic role and transmission of two novel ABCB11 mutations.

scientific article published in March 2013

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage

scientific article published on 15 December 2017

Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child

scientific article published on 18 August 2015

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

scientific article

Glycogenotic hepatocellular carcinoma with glycogen-ground-glass hepatocytes: histological, histochemical and microbiochemical characterization of the novel variant

scientific article published on 09 February 2012

Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy

scientific article published in November 2014

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs

scientific article

Human herpesvirus type 6 hepatitis or familiar intrahepatic cholestasis: the importance of follow-up ⬇️

scientific article published on February 26, 2009

Malignant pheochromocytoma in a 16-year-old patient with neurofibromatosis type 1

scientific article published on 20 February 2014

Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma.

scientific article published on February 2015

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency

scientific article published on 01 March 2012

Reply from the authors

scientific article published on 01 November 2012

The Impact of Specific Viruses on Clinical Outcome in Children Presenting with Acute Heart Failure

scientific article published on April 2016

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