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Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys
BACKGROUND: In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next‐generation seq...
Autores principales: | Said, Mariem Ben, Ayed, Ikhlas Ben, Elloumi, Ines, Hasnaoui, Mehdi, Souissi, Amal, Idriss, Nabil, Aloulou, Hajer, Chabchoub, Imen, Maâlej, Bayen, Driss, Dorra, Masmoudi, Saber |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830811/ https://www.ncbi.nlm.nih.gov/pubmed/34997822 http://dx.doi.org/10.1002/mgg3.1868 |
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