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The Journal of Molecular Diagnostics : JMD|May 23, 2017
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing SyndromesPaula Paulo, Pedro Pinto, Ana Peixoto, et al.
Familial Cancer|September 2, 2016
Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpressionVerónica Cabreira, Carla Pinto, Manuela Pinheiro, et al.
Gynecologic Oncology|June 4, 2026
Clinical relevance of homologous recombination repair gene alterations in endometrial cancer patients in the era of molecular classificationSara Neves Carvalho, Inês Soldin, Raquel Mugeiro Silva, et al.
Cancers|October 3, 2020
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond <i>BRCA1</i>/<i>BRCA2</i>Ana Barbosa, Pedro Pinto, Ana Peixoto, et al.
Frontiers in Genetics|September 20, 2023
Combined germline and tumor mutation signature testing identifies new families with <i>NTHL1</i> tumor syndromeCarla Pinto, Joana Guerra, Manuela Pinheiro, et al.
JIMD Reports|March 2, 2017
Galactose Epimerase Deficiency: Expanding the PhenotypeFilipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, et al.
Plos One|August 18, 2016
Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater CarcinomasPedro Pinto, Ana Peixoto, Catarina Santos, et al.
Stem Cells (Dayton, Ohio)|August 12, 2024
Metabolic conditioning enhances human bmMSC therapy of doxorubicin-induced heart failureVirginie Jacques, Sabrina Benaouadi, Jean-Gerard Descamps, et al.
Frontiers in Endocrinology|November 28, 2022
Determination of iFGF23 Upper Reference Limits (URL) in healthy pediatric population, for its better correct useVincenzo Brescia, Antonietta Fontana, Roberto Lovero, et al.
International Journal of Colorectal Disease|March 18, 2022
KRAS and NRAS mutational analysis in plasma ctDNA from patients with metastatic colorectal cancer by real-time PCR and digital PCRManuela Pinheiro, Ana Peixoto, Patricia Rocha, et al.
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