Found: 27
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Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report.
- Published in:
- 2019
- By:
- Publication type:
- case study
Molecular diagnosis of infectious diseases in São Miguel Island (Azores, Portugal): A hospital-based descriptive study.
- Published in:
- Journal of Infection in Developing Countries, 2016, v. 10, n. 9, p. 956, doi. 10.3855/jidc.7906
- By:
- Publication type:
- Article
UGT1A1, UGT1A6 and UGT1A7 Genetic Analysis.
- Published in:
- Molecular Diagnosis & Therapy, 2009, v. 13, n. 4, p. 261, doi. 10.1007/BF03256331
- By:
- Publication type:
- Article
A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
- Published in:
- International Journal of Endocrinology, 2018, p. 1, doi. 10.1155/2018/8470642
- By:
- Publication type:
- Article
A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
- Published in:
- BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0417-5
- By:
- Publication type:
- Article
A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
- Published in:
- BMC Pediatrics, 2015, v. 15, n. 1, p. 95, doi. 10.1186/s12887-015-0417-5
- By:
- Publication type:
- Article
A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Low frequency of CD4<sup>+</sup> CD25<sup>+</sup> Treg in SLE patients: a heritable trait associated with CTLA4 and TGF gene variants.
- Published in:
- BMC Immunology, 2009, v. 10, p. 1, doi. 10.1186/1471-2172-10-5
- By:
- Publication type:
- Article
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis.
- Published in:
- Molecular Carcinogenesis, 2017, v. 56, n. 1, p. 130, doi. 10.1002/mc.22478
- By:
- Publication type:
- Article
Oxidative stress levels are correlated with P15 and P16 gene promoter methylation in myelodysplastic syndrome patients.
- Published in:
- Clinical & Experimental Medicine, 2016, v. 16, n. 3, p. 333, doi. 10.1007/s10238-015-0357-2
- By:
- Publication type:
- Article
Human Leptospirosis: Seroreactivity and Genetic Susceptibility in the Population of São Miguel Island (Azores, Portugal).
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108534
- By:
- Publication type:
- Article
Enzyme immunoassays (EIA) for serodiagnosis of human leptospirosis: Specific IgG3/IgG1 isotyping may further inform diagnosis of acute disease.
- Published in:
- PLoS Neglected Tropical Diseases, 2022, v. 16, n. 2, p. 1, doi. 10.1371/journal.pntd.0010241
- By:
- Publication type:
- Article
Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-54
- By:
- Publication type:
- Article
HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium.
- Published in:
- BMC Research Notes, 2010, v. 3, p. 134, doi. 10.1186/1756-0500-3-134
- By:
- Publication type:
- Article
Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 10, p. 726, doi. 10.1111/j.1469-8749.2007.00726.x
- By:
- Publication type:
- Article
DNA Methylation Is Correlated with Oxidative Stress in Myelodysplastic Syndrome—Relevance as Complementary Prognostic Biomarkers.
- Published in:
- Cancers, 2021, v. 13, n. 13, p. 3138, doi. 10.3390/cancers13133138
- By:
- Publication type:
- Article
A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract.
- Published in:
- Thyroid, 2013, v. 23, n. 9, p. 1074, doi. 10.1089/thy.2012.0649
- By:
- Publication type:
- Article
Surnames in the Azores: Analysis of the Isonymy Structure.
- Published in:
- Human Biology, 2005, v. 77, n. 1, p. 37, doi. 10.1353/hub.2005.0026
- By:
- Publication type:
- Article
Population Structure of São Miguel Island, Azores: A Surname Study.
- Published in:
- Human Biology, 2003, v. 75, n. 6, p. 929, doi. 10.1353/hub.2004.0002
- By:
- Publication type:
- Article
Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140228
- By:
- Publication type:
- Article
Evaluation of Linkage Disequilibrium on the Xq13.3 Region: Comparison Between the Azores Islands and Mainland Portugal.
- Published in:
- American Journal of Human Biology, 2008, v. 20, n. 3, p. 364, doi. 10.1002/ajhb.20734
- By:
- Publication type:
- Article
Genetic Signature of the São Miguel Island Population (Azores) Assessed by 21 Microsatellite Loci.
- Published in:
- American Journal of Human Biology, 2008, v. 20, n. 1, p. 118, doi. 10.1002/ajhb.20692
- By:
- Publication type:
- Article
Assessment of Azorean ancestry by Alu insertion polymorphisms.
- Published in:
- American Journal of Human Biology, 2006, v. 18, n. 2, p. 223, doi. 10.1002/ajhb.20492
- By:
- Publication type:
- Article
Geography of surnames in the Azores: Specificity and spatial distribution analysis.
- Published in:
- American Journal of Human Biology, 2005, v. 17, n. 5, p. 634
- By:
- Publication type:
- Article
Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication.
- Published in:
- BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12863-014-0115-6
- By:
- Publication type:
- Article