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Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
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39386107 (PubMed )
Supplement: mmc2.xlsx › standard
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
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European Journal of Neurology, 2024
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Kim M et al.
Plos One, 2017
29281699 (PubMed )
Supplement: pone.0190077.s002.xlsx › Sheet1
An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.
Park KY et al.
Journal of Korean Medical Science, 2016
27366014 (PubMed )
Supplement: jkms-31-1136-s001.pdf
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D et al.
The Journal of Allergy and Clinical Immunology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.
Kim EJ et al.
Annals of Dermatology, 2011
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