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Authors whose works are in public domain in at least one jurisdiction

List of works by Eva Trevisson

1-19 of 19 results

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Genetic bases and clinical manifestations of coenzyme Q10(CoQ10) deficiency

scientific article published on 05 August 2014
Coenzyme Q deficiency in muscle

scientific article published on October 1, 2011
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

scientific article
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.

scientific article
Optical Coherence Tomography in the Diagnosis of Optic Pathway Gliomas

scientific article published on December 17, 2013
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

article
Is there a link between COQ6 and schwannomatosis?

scientific article
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria

scientific article published on January 10, 2012
Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1

scientific article published on October 7, 2015
Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

scientific article published on May 27, 2013
Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

scientific article published on 14 November 2019
Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome

scientific article published on 16 February 2015
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

scientific article published in 2021
Vitamin K2 cannot substitute Coenzyme Q as electron carrier in the mitochondrial respiratory chain of mammalian cells

scientific article published on 25 April 2019
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

scientific article published on 09 September 2019
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

scientific article published on 01 January 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosis

scientific article published on 02 September 2020
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

scientific article published on 03 August 2020

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