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When Higher Education Meets Sustainable Development of Rural Areas: Lessons Learned from a Community–University Partnership.
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- Social Sciences (2076-0760), 2022, v. 11, n. 8, p. 338, doi. 10.3390/socsci11080338
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- Article
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14656, doi. 10.3390/ijms232314656
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- Article
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6064, doi. 10.3390/ijms22116064
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- Article
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
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- Human Genetics, 2023, v. 142, n. 8, p. 1055, doi. 10.1007/s00439-023-02572-y
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- Article
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 160, doi. 10.1002/ajmg.c.32034
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- Article
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406
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- Article
Spot volatility estimation using delta sequences.
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- Finance & Stochastics, 2015, v. 19, n. 2, p. 261, doi. 10.1007/s00780-015-0255-1
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- Article
Cover Image, Volume 170A, Number 7, July 2016.
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- 2016
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- Publication type:
- Other
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
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- Article
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
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- British Journal of Haematology, 2019, v. 185, n. 5, p. 994, doi. 10.1111/bjh.15688
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- Article
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
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- British Journal of Haematology, 2016, v. 172, n. 5, p. 782, doi. 10.1111/bjh.13880
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- Article
Geographical Indications and Public Good Relationships: Evidence and Policy Implications.
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- EuroChoices, 2022, v. 21, n. 2, p. 66, doi. 10.1111/1746-692X.12360
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- Article
Geographical Indications and Transatlantic Trade Negotiations: Different US and EU Perspectives Indications géographiques et négociations commerciales transatlantiques : Différences de perspective entre l'Union européenne et les États-Unis Geografische Angaben und transatlantische Handelsverhandlungen: Unterschiedliche Sichtweisen in den USA und der EU
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- EuroChoices, 2017, v. 16, n. 2, p. 34, doi. 10.1111/1746-692X.12131
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- Article
Consumer Communication and Organisational Strategies for Animal Welfare by the Food and Retail Industries in Italy Stratégies d'organisation et de communication envers les consommateurs en matière de bien-être animal de l'industrie alimentaire et du commerce de détail en Italie Verbraucherkommunikation und Organisationsstrategien zum Tierschutz in der italienischen Lebensmittelindustrie und im Einzelhandel
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- EuroChoices, 2013, v. 12, n. 2, p. 50, doi. 10.1111/1746-692X.12000
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- Article
Designing an Institutional Network for Improving Farm Animal Welfare in the EU.
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- Journal of Common Market Studies, 2017, v. 55, n. 5, p. 1081, doi. 10.1111/jcms.12547
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- Article
Regulatory Framework and Private Innovation: The Case of Animal Welfare Friendly Beef Supply Chain in Italy.
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- International Journal on Food System Dynamics, 2010, v. 1, n. 2, p. 143
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- Article
IDENTIFYING THE BROWNIAN COVARIATION FROM THE CO-JUMPS GIVEN DISCRETE OBSERVATIONS.
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- Econometric Theory, 2012, v. 28, n. 2, p. 249, doi. 10.1017/S0266466611000326
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- Article
Non-parametric Threshold Estimation for Models with Stochastic Diffusion Coefficient and Jumps.
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- Scandinavian Journal of Statistics, 2009, v. 36, n. 2, p. 270, doi. 10.1111/j.1467-9469.2008.00622.x
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- Article
Time evaluation and its accuracy in eating disorders: differences in relation to interoceptive awareness.
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- Eating & Weight Disorders, 2022, v. 27, n. 7, p. 2551, doi. 10.1007/s40519-022-01394-7
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- Article
Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain.
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- Eating & Weight Disorders, 2021, v. 26, n. 7, p. 2251, doi. 10.1007/s40519-020-01081-5
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- Article
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
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- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-22
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- Article
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2980, doi. 10.1093/brain/aws240
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- Article
Innovation and marketing strategies for PDO products: the case of "Parmigiano Reggiano" as an ingredient.
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- Bio-Based & Applied Economics, 2016, v. 5, n. 2, p. 153, doi. 10.13128/BAE-20087
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- Article
Sustainability of GI production systems in the framework of the TTIP negotiations.
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- Bio-Based & Applied Economics, 2016, v. 5, n. 2, p. 131, doi. 10.13128/BAE-17141
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- Article
Organisation as a key factor in Localised Agri-Food Systems (LAFS).
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- Bio-Based & Applied Economics, 2015, v. 4, n. 1, p. 17, doi. 10.13128/BAE-15088
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- Article
Introduction to the Special Issue: Financial Mathematics and Econometrics.
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- Economic Notes, 2010, v. 39, n. 1/2, p. 43, doi. 10.1111/j.1468-0300.2010.00223.x
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- Article
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
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- Article
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
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- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1090082
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- Article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
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- Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
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- Article
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247
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- Article
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
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- Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140
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- Article
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
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- Journal of Clinical Immunology, 2022, v. 42, n. 2, p. 299, doi. 10.1007/s10875-021-01159-4
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- Article
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene ( CLN5) mutations.
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- Journal of Neurology, 2015, v. 262, n. 1, p. 173, doi. 10.1007/s00415-014-7553-y
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- Article
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-77352-z
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- Article
Sustainability, Innovation and Rural Development: The Case of Parmigiano-Reggiano PDO.
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- Sustainability (2071-1050), 2019, v. 11, n. 18, p. 4978, doi. 10.3390/su11184978
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- Article
Measuring the Economic, Environmental, and Social Sustainability of Short Food Supply Chains.
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- Sustainability (2071-1050), 2019, v. 11, n. 15, p. 4004, doi. 10.3390/su11154004
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- Article
Producers' and Consumers' Perception of the Sustainability of Short Food Supply Chains: The Case of Parmigiano Reggiano PDO.
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- Sustainability (2071-1050), 2019, v. 11, n. 3, p. 721, doi. 10.3390/su11030721
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- Article
Are Geographical Indication Products Fostering Public Goods? Some Evidence from Europe.
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- Sustainability (2071-1050), 2019, v. 11, n. 1, p. 272, doi. 10.3390/su11010272
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- Article
Short supply chains and Protected Designations of Origin: the case of Parmigiano Reggiano (Italy).
- Published in:
- Ager: Journal of Depopulation & Rural Development Studies / Revista de Estudios sobre Despoblación y Desarrollo Rural, 2018, n. 25, p. 43, doi. 10.4422/ager.2018.11
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- Article
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1225, doi. 10.1002/mds.29795
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- Article
Thyroid Hormones Affect Neurogenesis in the Dentate Gyrus of Adult Rat.
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- Neuroendocrinology, 2005, v. 81, n. 4, p. 244, doi. 10.1159/000087648
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- Article
Persistently High Corticosterone Levels but Not Normal Circadian Fluctuations of the Hormone Affect Cell Proliferation in the Adult Rat Dentate Gyrus.
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- Neuroendocrinology, 2002, v. 76, n. 6, p. 366, doi. 10.1159/000067581
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- Article
Urinary free cortisol and childhood maltreatments in eating disorder patients: New evidence for an ecophenotype subgroup.
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- European Eating Disorders Review, 2022, v. 30, n. 4, p. 364, doi. 10.1002/erv.2896
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- Publication type:
- Article
Localised Agro-Food Systems and Geographical Indications in the Face of Globalisation: The Case of Queso Chontaleño.
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- Sociologia Ruralis, 2013, v. 53, n. 2, p. 180, doi. 10.1111/soru.12004
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- Publication type:
- Article
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
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- Human Mutation, 2010, v. 31, n. 10, p. 1117, doi. 10.1002/humu.21342
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- Article
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
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- Genes, 2022, v. 13, n. 5, p. 889, doi. 10.3390/genes13050889
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- Article
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.
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- Genes, 2021, v. 12, n. 7, p. 1009, doi. 10.3390/genes12071009
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- Article
Multi-methodological Geophysical Exploration for the Interpretation of the Ancient Landscape of Phaistos (Greece).
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- Archaeological Prospection, 2016, v. 23, n. 4, p. 287, doi. 10.1002/arp.1544
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- Article
Il distretto del Prosciutto di Parma tra tipicità e sostenibilità.
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- Economia e Diritto Agroalimentare, 2012, v. 17, n. 1, p. 133
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- Publication type:
- Article
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9637, doi. 10.3390/ijms25179637
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- Article