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Clinical Genetics|October 26, 2019
Novel variants in CDH2 are associated with a new syndrome including Peters anomalyLinda M Reis, Nathalie S Houssin, Carlos Zamora, et al.
American Journal of Medical Genetics. Part A|June 16, 2021
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genesAlanna Strong, Laurie Simone, Anthony Krentz, et al.
Cancers|January 17, 2019
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann SyndromeAlessandro Mussa, Valentina Pia Ciuffreda, Pina Sauro, et al.
Journal of Cancer Research and Clinical Oncology|October 5, 2019
The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrumAlessandro Mussa, Kelly A Duffy, Diana Carli, et al.
Journal of Children'S Orthopaedics|October 20, 2025
Evolution of discrepancies in limb asymmetry in Beckwith-Wiedemann spectrumRyan D Lopez, Carter E Hall, Jonathan H Sussman, et al.
The Journal of Clinical Endocrinology and Metabolism|February 16, 2026
Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinismChristine A Juliana, Changhong Li, Jinghua Chai, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 10, 2023
Adult experiences in Beckwith-Wiedemann syndromeWilliam A Drust, Alessandro Mussa, Andrea Gazzin, et al.
Pediatric Blood & Cancer|January 10, 2017
Management of adrenal masses in patients with Beckwith-Wiedemann syndromeSuzanne P MacFarland, Sogol Mostoufi-Moab, Kristin Zelley, et al.
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