Associated Papers
Alternative Splicing Regulation in Metabolic Disorders.
Kaminska D
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
Kurolap A et al.
Journal of Medical Genetics, 2018
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.
Cefalù AB et al.
Atherosclerosis, 2009
Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese.
Nagano M et al.
Journal of Atherosclerosis and Thrombosis, 2004
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