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List of works by Eva Trevisson

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

scientific article published on 03 August 2020

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

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

Coenzyme Q deficiency in muscle ⬇️

scientific article published on October 1, 2011

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

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

scientific article published in 2021

Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome

scientific article published on 16 February 2015

Is there a link between COQ6 and schwannomatosis?

scientific article

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

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

scientific article published on 14 November 2019

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

article

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

scientific article published on 25 April 2019

Wilms tumor in patients with osteopathia striata with cranial sclerosis

scientific article published on 02 September 2020

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

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