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Scientific Reports|December 23, 2015
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing lossGiorgia Girotto, Déborah I Scheffer, Anna Morgan, et al.
European Journal of Human Genetics : EJHG|September 5, 2018
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing lossAnna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, et al.
Genes|October 29, 2025
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular AutopsyBeatrice Spedicati, Giulia Pianigiani, Aurora Santin, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Audiology Research|May 23, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing ImpairmentLaurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo, et al.
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