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BMC Medical Genetics|April 19, 2020
Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repairStefano Petrillo, Umile Giuseppe Longo, Katia Margiotti, et al.BMC Medical Genetics|December 22, 2018
Genetics of rotator cuff tears: no association of col5a1 gene in a case-control studyUmile Giuseppe Longo, Katia Margiotti, Stefano Petrillo, et al.Current Stem Cell Research & Therapy|July 12, 2014
Unravelling the genetic susceptibility to develop ligament and tendon injuriesUmile Giuseppe Longo, Mattia Loppini, Katia Margiotti, et al.Archives of Oral Biology|April 24, 2017
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patientsKatia Margiotti, Giulia Pascolini, Federica Consoli, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 21, 2012
Pentalogy of cantrell with complete ectopia cordis in a fetus with aspleniaKathrin Ludwig, Roberto Salmaso, Erich Cosmi, et al.BMC Research Notes|March 20, 2020
Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experienceKatia Margiotti, Anthony Cesta, Claudio Dello Russo, et al.Journal of Medicine and Life|January 18, 2021
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound ExaminationsFrancesco Libotte, Sonia Lorena Carpineto, Claudio Dello Russo, et al.Methods and Protocols|June 25, 2026
Folate Receptor Alpha Autoantibodies in Early Pregnancy: First-Trimester Reference Intervals and Proposed Clinical ThresholdsClaudio Giorlandino, Marina Cupellaro, Katia Margiotti, et al.Neurogenetics|August 15, 2025
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndromeKatia Margiotti, Marco Fabiani, Costanza Zangheri, et al.Diagnostics (Basel, Switzerland)|November 27, 2024
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal CiliopathiesKatia Margiotti, Marco Fabiani, Antonella Cima, et al.Pageof 5