Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.
Song L et al.
Molecular Therapy. Nucleic Acids, 2021
34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
33435499 (PubMed )
Supplement: genes-12-00080-s001.pdf
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
Li H et al.
The Journal of Investigative Dermatology, 2012
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