Filtros de búsqueda

Lista de obras de Stephanie Efthymiou

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

artículo científico publicado en 2018

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

scientific article published on 01 May 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

artículo científico publicado en 2019

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

artículo científico publicado en 2021

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

artículo científico publicado en 2021

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

The genetics of intellectual disability: advancing technology and gene editing

artículo científico publicado en 2020

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda