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Diagnostics (Basel, Switzerland)|November 11, 2022
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis SyndromeCaterina Micolonghi, Maria Piane, Aldo Germani, et al.Diagnostics (Basel, Switzerland)|December 23, 2022
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, et al.Frontiers in Cardiovascular Medicine|April 24, 2023
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?Francesco Cava, Caterina Micolonghi, Maria Beatrice Musumeci, et al.International Journal of Environmental Research and Public Health|July 9, 2022
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical PathwaysLavinia Bianco, Salvatore Raffa, Paolo Fornelli, et al.Journal of Clinical Medicine|August 10, 2024
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective StudyRossella Mazzilli, Simona Petrucci, Virginia Zamponi, et al.Journal of the Neurological Sciences|July 6, 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibsRaffaella Di Giacopo, Luciano Cianetti, Viviana Caputo, et al.Neurology|September 4, 2016
Impulsive-compulsive behaviors in parkin-associated Parkinson diseaseFrancesca Morgante, Alfonso Fasano, Monia Ginevrino, et al.Journal of Clinical Medicine|June 3, 2020
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise TestingDamiano Magrì, Vittoria Mastromarino, Giovanna Gallo, et al.Molecular Genetics & Genomic Medicine|May 18, 2018
Whole-exome sequencing for variant discovery in blepharospasmJun Tian, Satya R Vemula, Jianfeng Xiao, et al.Journal of Clinical Medicine|September 22, 2020
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic CancersAldo Germani, Simona Petrucci, Laura De Marchis, et al.Pageof 6