ALBERTO MANUEL
PARRA PÉREZ
PREDOCTORAL PIF
José Antonio
López Escámez
Publicaciones en las que colabora con José Antonio López Escámez (6)
2024
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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Human Genetics, Vol. 143, Núm. 3, pp. 423-435
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Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease
Genes, Vol. 15, Núm. 1
2023
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A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases
Journal of Biomedical Informatics, Vol. 143
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Types of Inheritance and Genes Associated with Familial Meniere Disease
JARO - Journal of the Association for Research in Otolaryngology, Vol. 24, Núm. 3, pp. 269-279
2022
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A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
European Journal of Human Genetics, Vol. 30, Núm. 11, pp. 1301-1305
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Defective α‐tectorin may involve tectorial membrane in familial Meniere disease
Clinical and Translational Medicine