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List of works by Gabriella Sole

A Novel Mutation in the GLC1A Gene Causes Juvenile Open-angle Glaucoma in 4 Families From the Italian Region of Puglia ⬇️

scientific article published on June 1, 1998

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

scientific article published on 20 November 2020

A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online

scientific article (publication date: 1998)

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

scientific article published on 6 September 2006

Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family

scientific article published on 01 July 1999

Does a genetic predisposition for infarction expansion exist? Evaluation of genetic polymorphisms of the renin-angiotensin system

scientific article published in March 1997

Enterocyte Actin Autoantibody Detection: A New Diagnostic Tool in Celiac Disease Diagnosis: Results of a Multicenter Study

scientific article published on 01 August 2004

G-6-PD Cagliari II: a new G-6-PD variant

scientific article published on 01 May 1987

Genetic heterogeneity of beta zero-thalassemia intermedia in Southern Sardinia

scientific article published on 01 March 1985

Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region

scientific article published on 01 August 2004

Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.

scientific article

Genetic variants regulating immune cell levels in health and disease.

scientific article published on September 2013

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

scientific article

Immune reaction against the cytoskeleton in coeliac disease.

scientific article

Iron overload and lysosomal stability in beta (0)-thalassemia intermedia: N-acetyl-beta-D-glucosaminidase isoenzymatic pattern

scientific article published on 01 January 1988

Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia.

scientific article published on July 1994

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

scientific article published on June 2008

Serum IgE reactivity profiling in an asthma affected cohort

scientific article (publication date: 2011)

The value of some Corsican sub-populations for genetic association studies

scientific article

[Erythrocyte antioxidant enzymatic systems and serum beta-glucuronidase in subjects with favism. Preliminary results]

scientific article published on 01 April 1988

[Heterozonal electrocardiographic changes in ST-elevation myocardial infarction]

scientific article published on 01 February 2007

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