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Global Game Jam in Latin-America, a Collaborative Videogame Learning Experience.
- Published in:
- Social Sciences (2076-0760), 2020, v. 9, n. 3, p. 28, doi. 10.3390/socsci9030028
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- Article
Converging longitudinal patterns of atrophy in clinical variants of frontotemporal lobar degeneration.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.053807
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- Publication type:
- Article
Brain MRI signatures of atrophy in genetic frontotemporal lobar degeneration.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.053774
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- Publication type:
- Article
Generation of β Cells from iPSC of a MODY8 Patient with a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene.
- Published in:
- 2021
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- Publication type:
- journal article
Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9548, doi. 10.3390/ijms24119548
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- Article
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3346, doi. 10.3390/ijms21093346
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- Article
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 24, p. 6247, doi. 10.3390/ijms20246247
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- Article
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
- Published in:
- 2017
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- Publication type:
- journal article
Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.952715
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- Article
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome).
- Published in:
- 2023
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- Publication type:
- Case Study
Long-term virological effect of highly active antiretroviral therapy on cerebrospinal fluid and relationship with genotypic resistance.
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- Journal of NeuroVirology, 2004, v. 10, p. 52, doi. 10.1080/13550280490270824
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- Publication type:
- Article
Possible role of fructosamine 3-kinase genotyping for the management of diabetic patients.
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- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 9, p. 1315, doi. 10.1515/cclm-2015-0207
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- Publication type:
- Article
CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology.
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- Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 6, p. 783, doi. 10.1515/CCLM.2009.161
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- Publication type:
- Article
Optimized Detection of DNA Point Mutations by Double Gradient Denaturing Gradient Gel Electrophoresis.
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- Clinical Chemistry & Laboratory Medicine, 1998, v. 36, n. 12, p. 959
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- Publication type:
- Article
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
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- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0288336
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- Publication type:
- Article
Cystogenic potential of CD133+ progenitor cells of human polycystic kidneys.
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- Journal of Pathology, 2011, v. 225, n. 1, p. 129, doi. 10.1002/path.2920
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- Publication type:
- Article
Efficacy of Low-Dose Intermittent Subcutaneous Interleukin (IL)-2 in Antiviral Drug--Experienced Virus Load: A Controlled Study of 3 IL-2 Regimens with Antiviral Drug Therapy.
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- Journal of Infectious Diseases, 2001, v. 183, n. 10, p. 1476, doi. 10.1086/320188
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- Publication type:
- Article
Null ABCA3 in humans: Large homozygous ABCA3 deletion, correlation to clinical-pathological findings.
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- Pediatric Pulmonology, 2014, v. 49, n. 3, p. E116, doi. 10.1002/ppul.22983
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- Publication type:
- Article
Sister chromatid exchanges in first-trimester chorionic villi after in vivo and in vitro exposure to diagnostic ultrasound.
- Published in:
- 1990
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- Publication type:
- journal article
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
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- Diabetologia, 2023, v. 66, n. 4, p. 695, doi. 10.1007/s00125-022-05865-5
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- Publication type:
- Article
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
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- Scientific Reports, 2016, p. 30850, doi. 10.1038/srep30850
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- Publication type:
- Article
SOD1 mutations in amyotrophic lateral sclerosis.
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- Journal of Neurology, 2005, v. 252, n. 7, p. 782, doi. 10.1007/s00415-005-0742-y
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- Publication type:
- Article
Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can!
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- Cancers, 2023, v. 15, n. 1, p. 43, doi. 10.3390/cancers15010043
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- Publication type:
- Article
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-464
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- Publication type:
- Article
ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.
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- 2019
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- Publication type:
- journal article
Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?
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- 2023
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- Publication type:
- Case Study
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1844, doi. 10.1002/acn3.51876
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- Publication type:
- Article
Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.931006
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- Publication type:
- Article
A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report.
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- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1204504
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- Publication type:
- Article
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
- Published in:
- 2019
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- Publication type:
- journal article
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 3, p. 1342, doi. 10.1007/s00415-023-12074-6
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- Publication type:
- Article
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates.
- Published in:
- 2023
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- Publication type:
- Case Study
Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 8, p. 2272, doi. 10.1007/s00415-020-09838-9
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- Publication type:
- Article
Control de inventarios de las unidades de propiedad en la bodega de material eléctrico de la Empresa Eléctrica Regional Norte S.A.
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- Dilemas Contemporáneos: Educación, Política y Valores, 2020, v. 8, n. 1, p. 1
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- Publication type:
- Article
Evaluación de la utilización de herramientas tecnológicas en la enseñanza de la matemática.
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- Dilemas Contemporáneos: Educación, Política y Valores, 2020, v. 8, n. 1, p. 1
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- Publication type:
- Article
Evasión tributaria de comerciantes de mercados populares.
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- Dilemas Contemporáneos: Educación, Política y Valores, 2020, v. 7, p. 1
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- Publication type:
- Article
Crédito y cobranza. Un análisis en Seguros Equinoccial.
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- Dilemas Contemporáneos: Educación, Política y Valores, 2019, v. 7, p. 1
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- Publication type:
- Article
Indicadores de control y aseguramiento de calidad para las empresas florícolas ecuatorianas, zona Tabacundo.
- Published in:
- Dilemas Contemporáneos: Educación, Política y Valores, 2019, v. 6, p. 1
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- Publication type:
- Article
Very High Prevalence of Right-to-Left Shunt on Transcranial Doppler in an Italian Family with Cerebral Autosomal Dominant Angiopathy with Subcortical Infarcts and Leukoencephalopathy.
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- European Neurology, 2001, v. 46, n. 4, p. 198, doi. 10.1159/000050804
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- Article
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy.
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- European Journal of Neurology, 2023, v. 30, n. 2, p. 511, doi. 10.1111/ene.15601
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- Publication type:
- Article
Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis.
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- European Journal of Neurology, 2022, v. 29, n. 7, p. 1930, doi. 10.1111/ene.15321
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- Publication type:
- Article
Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.
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- Biomedicines, 2023, v. 11, n. 10, p. 2657, doi. 10.3390/biomedicines11102657
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- Publication type:
- Article
BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories.
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- Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 146, doi. 10.3390/diagnostics9040146
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- Publication type:
- Article
A disorder of surfactant metabolism without identified genetic mutations.
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- Italian Journal of Pediatrics, 2015, v. 14, p. 1, doi. 10.1186/s13052-015-0198-3
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- Publication type:
- Article
Neutrosophic Psychology for Emotional Intelligence Analysis in Students of the Autonomous University of Los Andes, Ecuador.
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- Neutrosophic Sets & Systems, 2020, v. 34, p. 1
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- Publication type:
- Article
Clinical and pathological findings in neurolymphomatosis: Preliminary association with gene expression profiles in sural nerves.
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- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.974751
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- Publication type:
- Article
APC -Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1505, doi. 10.3390/genes14071505
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- Publication type:
- Article
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.
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- Genes, 2022, v. 13, n. 12, p. 2392, doi. 10.3390/genes13122392
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- Publication type:
- Article
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15089, doi. 10.3390/ijms242015089
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- Publication type:
- Article
Call for participation in the neurogenetics consortium within the Human Variome Project.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4
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- Publication type:
- Article