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Acta Medica Portuguesa|December 20, 2025
Cleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral CenterHelena Carolina Dias, Diogo Fernandes da Rocha, Marta Henriques Costa, et al.The American Journal of Surgical Pathology|June 25, 2016
Pathologic Findings in Prophylactic and Nonprophylactic Hysterectomy Specimens of Patients With Lynch SyndromeCarla Bartosch, Ana S Pires-Luís, Catarina Meireles, et al.Children (Basel, Switzerland)|June 24, 2022
Parathyroid Hormone-Related Peptide (PTHrP): Evaluation of Pediatric, Covariate-Stratified Reference IntervalsVincenzo Brescia, Antonietta Fontana, Roberto Lovero, et al.Pharmacogenetics and Genomics|August 23, 2023
Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patientsManuela Pinheiro, Ana Peixoto, Patrícia Rocha, et al.British Journal of Cancer|August 7, 2015
Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutationManuela Pinheiro, Carla Pinto, Ana Peixoto, et al.Frontiers in Oncology|October 18, 2021
Next Generation Sequencing of Tumor and Matched Plasma Samples: Identification of Somatic Variants in ctDNA From Ovarian Cancer PatientsAna Barbosa, Pedro Pinto, Ana Peixoto, et al.Genes, Chromosomes & Cancer|July 12, 2023
Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patientsPaula Paulo, Marta Cardoso, Andreia Brandão, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 26, 2011
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome familiesManuela Pinheiro, Carla Pinto, Ana Peixoto, et al.Biomedicines|February 25, 2022
Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of <i>BRCA1/2</i> and Homologous Recombination GenesNoélia Custódio, Rosina Savisaar, Célia Carvalho, et al.Cancer Medicine|October 27, 2017
POLE somatic mutations in advanced colorectal cancerJoana Guerra, Carla Pinto, Diana Pinto, et al.Pageof 12