Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
Hospitais da Universidade de Coimbra
Coímbra, PortugalPublications in collaboration with researchers from Hospitais da Universidade de Coimbra (19)
2023
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Addressing influenza’s underestimated burden – Iberian experts call to action
BMC Infectious Diseases
2022
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2019
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2018
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Cribriform-morular variant of thyroid carcinoma: a neoplasm with distinctive phenotype associated with the activation of the WNT/β-catenin pathway
Modern Pathology, Vol. 31, Núm. 8, pp. 1168-1179
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Ibero-American consensus on low- and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages
Nutrients, Vol. 10, Núm. 7
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
2017
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Introduction
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification
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Other rare tumours and tumour-like lesions
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 79-105
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Rare familial tumours
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 57-77
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Rare follicular tumours
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 27-44
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Rare papillary thyroid carcinomas
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 5-25
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Small cell tumours
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 45-56
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TERT, BRAF, and NRAS in primary thyroid cancer and metastatic disease
Journal of Clinical Endocrinology and Metabolism, Vol. 102, Núm. 6, pp. 1898-1907
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Therapeutic options
Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 107-110
2016
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Genetic predictors of thyroid cancer outcome
European Journal of Endocrinology, Vol. 174, Núm. 4, pp. R117-R126
2014
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TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas
Journal of Clinical Endocrinology and Metabolism, Vol. 99, Núm. 5
2013
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Frequency of TERT promoter mutations in human cancers
Nature Communications, Vol. 4
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1