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Lista de obras de Rocio Rius

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

artículo científico publicado en 2021

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

scientific article published on 07 June 2019

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

artículo científico publicado en 2019

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

artículo científico publicado en 2018

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

artículo científico publicado en 2020

Further delineation of achondroplasia-hypochondroplasia complex with long-term survival

artículo científico publicado en 2018

Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

scientific article published on 01 July 2018

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.

artículo científico publicado en 2016

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

scientific article published on 03 December 2021

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