Publicacións en colaboración con investigadores/as de Hospitais da Universidade de Coimbra (19)

2023

  1. Addressing influenza’s underestimated burden – Iberian experts call to action

    BMC Infectious Diseases

2022

  1. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

2021

  1. 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

  1. 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

  1. 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

  2. Ibero-American consensus on low- and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages

    Nutrients, Vol. 10, Núm. 7

  3. 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

  1. Introduction

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification

  2. Other rare tumours and tumour-like lesions

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 79-105

  3. Rare familial tumours

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 57-77

  4. Rare follicular tumours

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 27-44

  5. Rare papillary thyroid carcinomas

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 5-25

  6. Small cell tumours

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 45-56

  7. TERT, BRAF, and NRAS in primary thyroid cancer and metastatic disease

    Journal of Clinical Endocrinology and Metabolism, Vol. 102, Núm. 6, pp. 1898-1907

  8. Therapeutic options

    Rare Tumors of the Thyroid Gland: Diagnosis and WHO Classification (Springer International Publishing), pp. 107-110

2016

  1. Genetic predictors of thyroid cancer outcome

    European Journal of Endocrinology, Vol. 174, Núm. 4, pp. R117-R126

2014

  1. 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

  1. Frequency of TERT promoter mutations in human cancers

    Nature Communications, Vol. 4

  2. 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