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List of works by Rocio Rius

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

scientific article published on 20 April 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

scientific article published on 19 November 2019

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

scientific article published on 11 December 2018

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

scientific article published on 09 July 2020

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

scientific article published in May 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.

scientific article

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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