List of works - Risa Tona - Paulina

List of works by Risa Tona

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

scientific article published on 24 September 2020

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

scientific article published on 12 December 2018

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing

scientific article published on 20 June 2019

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

scientific article published on 01 May 2019

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