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American Journal of Medical Genetics. Part A|November 12, 2019
Wiedemann-Steiner syndrome in two patients from PortugalAna Grangeia, Miguel Leão, Carla P MouraJournal of Investigative Medicine High Impact Case Reports|January 24, 2023
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont SyndromeJoana Pereira-Nunes, Ana Vilan, Ana Grangeia, et al.American Journal of Medical Genetics. Part A|May 17, 2023
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 geneAndré Aires Fernandes, Ana Grangeia, Leonor Dias, et al.Porto Biomedical Journal|May 22, 2023
Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional studyBeatriz Sousa, Ana Grangeia, Joel Pinto, et al.Cureus|February 27, 2024
Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging DiagnosisPedro Miragaia, Ana Grangeia, Esmeralda Rodrigues, et al.Cureus|August 1, 2022
Cat-Eye Syndrome: A Report of Two Cases and Literature ReviewNélia S Gaspar, Gustavo Rocha, Ana Grangeia, et al.Neuropediatrics|July 14, 2022
Clinical Findings on Chromosome 1 Copy Number VariationsFilipa Leitão, Ana Grangeia, Joel Pinto, et al.Cerebellum (London, England)|August 12, 2024
Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign MimicMiguel Pereira-Macedo, Ana Grangeia, Ana Costa Braga, et al.Fertility and Sterility|February 12, 2005
A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferensAna Grangeia, Filipa Carvalho, Susana Fernandes, et al.Acta Neurologica Scandinavica|May 13, 2022
Congenital myopathies in adults: A diagnosis not to overlookMaria João Pinto, Bárbara Alves Passos, Ana Grangeia, et al.Pageof 4