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Publications by Raffaella Sallo

Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-Of-Function Mutations of ANGPTL3

Circulation: Cardiovascular Genetics

English

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Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

Arteriosclerosis, Thrombosis, and Vascular Biology

Cardiovascular Medicine

English

Studies on Three Kindreds With Familial Hypercholesterolemia and Xanthomatosis; Genetic, Clinical and Pathogenic Aspects

The Journal of Japan Atherosclerosis Society

English

Molecular Characterization of Loss-Of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote

American Journal of Human Genetics

English

Loss of Function Mutations inNNTAre Associated With Left Ventricular NoncompactionCLINICAL PERSPECTIVE

Circulation: Cardiovascular Genetics

English

Malformations in the Murine Kidney Caused by Loss of CENP-F Function

Anatomical Record

English

Novel PITX2c Loss-Of-Function Mutations Associated With Complex Congenital Heart Disease

International Journal of Molecular Medicine

English

Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Annals of Otology, Rhinology and Laryngology

Otorhinolaryngology

English

Effects of MYBPC3 Loss of Function Mutations Preceding Hypertrophic Cardiomyopathy

English

Molecular Pathology of Familial Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Myosin Binding Protein C Gene.

Journal of Medical Genetics

English