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Multiple bilateral retinal astrocytic hamartomas in Usher syndrome

Journal francais d'ophtalmologie, 2022-03, Vol.45 (3), p.363-364

2022

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Moments of accumulated reward and completion time in Markovian models with application to unreliable manufacturing systems

Performance evaluation, 2014-05, Vol.75-76, p.69-88

2014

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Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Clinical genetics, 2018-06, Vol.93 (6), p.1245-1247

2018

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A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

Genes and immunity, 2003-12, Vol.4 (8), p.570-574

2003

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Pleural malignant mesothelioma epidemic: Incidence, modalities of asbestos exposure and occupations involved from the Italian National Register

International journal of cancer, 2012-05, Vol.130 (9), p.2146-2154

2012

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Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits

Human genetics, 2001-08, Vol.109 (2), p.198-209

2001

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Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Journal of medical genetics, 1999-11, Vol.36 (11), p.833-836

1999

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Gut microbiota composition and functional relevance in subclinical carotid atherosclerosis

Atherosclerosis, 2020-12, Vol.315, p.e21-e21

2020

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Improvement in Hemodynamic Responses to Metaboreflex Activation after One Year of Training in Spinal Cord Injured Humans

BioMed research international, 2014-01, Vol.2014 (2014), p.1-9

2014

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Individual diet relates to gut microbiota functional dysbiosis since subclinical stages of atherosclerosis

Atherosclerosis, 2021-08, Vol.331, p.e212-e213

2021

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Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations

Human molecular genetics, 2004-01, Vol.13 (1), p.25-33

2004

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CF NEWBORN SCREENING AND ITS PREVENTIVE EFFECT: 7 YEARS EXPERIENCE IN THE UMBRIA REGION

Journal of cystic fibrosis, 2008-07, Vol.7, p.S26-S26

2008

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Lamivudine-induced paronychia

The Lancet (British edition), 1998-04, Vol.351 (9111), p.1256-1256

1998

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Global microRNA profiling of peripheral blood mononuclear cells in patients with Behçet's disease

Clinical and experimental rheumatology, 2015-11, Vol.33 (6 Suppl 94), p.S72

2015

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α-Synuclein seeding activity in duodenum biopsies from Parkinson's disease patients

PLoS pathogens, 2023-06, Vol.19 (6), p.e1011456-e1011456

2023

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Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

Human molecular genetics, 2013-09, Vol.22 (18), p.3654-3666

2013

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Identification of a founder BRCA2 mutation in Sardinia

British journal of cancer, 2000-02, Vol.82 (3), p.553-559

2000

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Bitter Taste Study ina Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivityto the TAS2R38 Bitter Receptor Gene

Chemical senses, 2004-10, Vol.29 (8), p.697-702

2004

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Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

Human genetics, 2003-12, Vol.114 (1), p.1-10

2003

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Erratum: BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

Bone marrow transplantation (Basingstoke), 2014-11, Vol.49 (11), p.1452-1452

2014

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A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search

American journal of human genetics, 2002-10, Vol.71 (4), p.893-905

2002

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A Genomewide Search Using an Original Pairwise Sampling Approach for Large Genealogies Identifies a New Locus for Total and Low-Density Lipoprotein Cholesterol in Two Genetically Differentiated Isolates of Sardinia

American journal of human genetics, 2004-12, Vol.75 (6), p.1015-1031

2004

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The Role of Mathematical Modeling and Genetic Engineering for the Microalgae Based Technology

Chemical engineering transactions, 2015-01, Vol.43

2015

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Multiple bilateral retinal astrocytic hamartomas in Usher syndrome

Moments of accumulated reward and completion time in Markovian models with application to unreliable manufacturing systems

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

Pleural malignant mesothelioma epidemic: Incidence, modalities of asbestos exposure and occupations involved from the Italian National Register

Pleural mesothelioma risk in the construction industry: a case-control study in Italy, 2000-2018

Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Gut microbiota composition and functional relevance in subclinical carotid atherosclerosis

Improvement in Hemodynamic Responses to Metaboreflex Activation after One Year of Training in Spinal Cord Injured Humans

Population- and individual-specific regulatory variation in Sardinia

Individual diet relates to gut microbiota functional dysbiosis since subclinical stages of atherosclerosis

Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations

CF NEWBORN SCREENING AND ITS PREVENTIVE EFFECT: 7 YEARS EXPERIENCE IN THE UMBRIA REGION

Lamivudine-induced paronychia

Global microRNA profiling of peripheral blood mononuclear cells in patients with Behçet's disease

α-Synuclein seeding activity in duodenum biopsies from Parkinson's disease patients

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

Identification of a founder BRCA2 mutation in Sardinia

Bitter Taste Study ina Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivityto the TAS2R38 Bitter Receptor Gene

Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

Erratum: BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search

A Genomewide Search Using an Original Pairwise Sampling Approach for Large Genealogies Identifies a New Locus for Total and Low-Density Lipoprotein Cholesterol in Two Genetically Differentiated Isolates of Sardinia

The Role of Mathematical Modeling and Genetic Engineering for the Microalgae Based Technology

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