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Cureus|February 15, 2023
Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency DiagnosisJoana Pereira-Nunes, Cristina Ferreras, Ana Grangeia, et al.
Neuropediatrics|October 12, 2023
Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case SeriesAna Vilan, Ana Grangeia, José Mendes Ribeiro, et al.
Acta Reumatologica Portuguesa|July 21, 2021
Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestationIvana Cardoso, Mariana Rodrigues, Ana Grangeia, et al.
Pediatric Rheumatology Online Journal|May 24, 2023
Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbingRafaela Nicolau, Tiago Beirão, Francisca Guimarães, et al.
Annals of Diagnostic Pathology|November 7, 2022
Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetusesBeatriz C Costa, Ana Grangeia, Joana Galvão, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2007
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferensAna Grangeia, Rosália Sá, Filipa Carvalho, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 21, 2019
Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidismRita Santos-Silva, Marta Rosário, Ana Grangeia, et al.
European Journal of Ophthalmology|May 9, 2023
Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case seriesAna Filipa Moleiro, Joana Santos Oliveira, Ana Grangeia, et al.
Neuro-Ophthalmology (Aeolus Press)|March 18, 2026
Ophthalmic, Systemic and Genetic Features in Wolfram SyndromeAna Maria Cunha, Sérgio Estrela-Silva, João Barbosa-Breda, et al.
European Journal of Ophthalmology|April 30, 2020
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (<i>RLBP1</i>) gene causes retinitis punctata albescensSónia Torres-Costa, Carla Sofia Ferreira, Ana Grangeia, et al.
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