Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK9_het
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 2024
38791074 (PubMed )
Supplement: biomedicines-12-01112-s001.zip › biomedicines-2972903-SM_final › Supplementary_files › SUPPLEMENTARY_Table_S3.pdf
Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
Nohara T et al.
Journal of Dermatological Science, 2021
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hotz A et al.
Human Mutation, 2018
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.
Ma X et al.
Nature Communications, 2015
25790293 (PubMed )
Supplement: ncomms7604-s3.xls › Sheet1
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