María
Isidoro García
Profesora Asociada CC. Salud
Hospital Universitario Central de Asturias
Oviedo, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Central de Asturias (2)
2023
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
2018
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Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
BMC Medical Genomics, Vol. 11, Núm. 1