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List of works by Jennifer M Duff

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

scientific article published on 19 January 2018

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

scientific article

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Genetic heterogeneity of motor neuropathies

scientific article published on March 2017

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

Impact of Palliative Chemotherapy and Travel Distance on Hospice Referral in Patients With Stage IV Pancreatic Cancer: A Retrospective Analysis Within a Veterans Administration Medical Center.

scientific article published in January 2017

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

scientific article

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

scientific article published on 2 May 2018

Phenotypic convergence of Menkes and Wilson disease

scientific article

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

scientific article published in October 2012

SCP2 mutations and neurodegeneration with brain iron accumulation

scientific article

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article published on 10 June 2015

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

scientific article published in July 2014

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