Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women.
Jamaluddin MFB et al.
Frontiers in Reproductive Health, 2023
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV et al.
American Journal of Human Genetics, 2018
30503519 (PubMed )
Supplement: mmc2.pdf
Differential properties of cytomegalovirus pUL97 kinase isoforms affect viral replication and maribavir susceptibility.
Webel R et al.
Journal of Virology, 2014
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.
Saunders CJ et al.
American Journal of Medical Genetics. Part A, 2009
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