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Lista de obras de Célia Kun-Rodrigues

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

artículo científico publicado en 2015

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

scientific article published on 23 April 2020

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

artículo científico publicado en 2016

Whole-exome sequencing of Finnish patients with vascular cognitive impairment

scientific article published on 02 December 2020

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation

artículo científico publicado en 2022

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