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American Journal of Medical Genetics. Part A|May 6, 2025
DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel CaseSloane Clay, Alejandro Leon, Luke Wall, et al.
American Journal of Medical Genetics. Part A|September 7, 2022
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case reportAshley Reeves, Kanwal Ojha, Hannah Meddaugh, et al.
Frontiers in Pediatrics|March 7, 2024
Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing lossSloane Clay, Adele Evans, Regina Zambrano, et al.
Hearing Research|October 14, 2003
Thapsigargin suppresses cochlear potentials and DPOAEs and is toxic to hair cellsRichard P Bobbin, Margarett Parker, Luke Wall
Journal of Physics. Condensed Matter : an Institute of Physics Journal|April 21, 2026
Momentum- and frequency-resolved collective electronic excitations in solids: insights from spectroscopy and first-principles calculationsDario Alejandro Leon Valido, Kristian Berland
European Journal of Medical Genetics|January 17, 2020
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significanceKelsey Casano, Hannah Meddaugh, Regina M Zambrano, et al.
European Journal of Medical Genetics|December 15, 2010
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1Regina M Zambrano, Elizabeth Wohler, Göran Annerén, et al.
European Journal of Medical Genetics|October 13, 2017
New ocular finding in Baraitser-Winter syndrome (BWS)Natalie Rall, Alejandro Leon, Ricardo Gomez, et al.
American Journal of Audiology|August 2, 2023
Is Methotrexate Ototoxic? Investigating the Ototoxic Late Effects of Pediatric Cancer TreatmentBrittney Moore, Gabrielle Sheets, Jordan Doss, et al.
Plos One|December 23, 2014
Characterization of structure and function of ZS-9, a K+ selective ion trapFiona Stavros, Alex Yang, Alejandro Leon, et al.
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