Search filters

List of works by Fausto Cossu

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome

scientific article published in December 2002

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

scientific article (publication date: 9 March 2002)

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

scientific article (publication date: 18 May 2001)

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study

scientific article published on 26 November 2007

Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region

scientific article published on 01 January 1998

Genetic linkage of hyper-IgE syndrome to chromosome 4.

scientific article

Genetics of SCID

scientific article

Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia

article

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study

scientific article published on May 2009

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

scientific article

Paulina is supported by:

About Paulina

Help