Expression of a Mutant kcnj2 Gene Transcript in Zebrafish

بواسطة Leong, Ivone U. S., Skinner, Jonathan R., Shelling, Andrew N., Love, Donald R.
الحاوية / القاعدة ISRN Mol Biol (2013)

Novel mutations in Darier disease and association to self-reported disease severity

بواسطة Leong, Ivone U. S., Stuckey, Alexander, Ahanian, Tara, Cederlöf, Martin, Wikstrom, Jakob D.
الحاوية / القاعدة PLoS One (2017)

Metabolic phenotype in Darier disease: a cross-sectional clinical study

بواسطة Ahanian, Tara, Curman, Philip, Leong, Ivone U. S., Brismar, Kerstin, Bachar-Wikstrom, Etty, Cederlöf, Martin, Wikstrom, Jakob D.
الحاوية / القاعدة Diabetol Metab Syndr (2020)

Darier disease is associated with heart failure: a cross-sectional case-control and population based study

بواسطة Bachar-Wikstrom, Etty, Curman, Philip, Ahanian, Tara, Leong, Ivone U. S., Larsson, Henrik, Cederlöf, Martin, Wikstrom, Jakob D.
الحاوية / القاعدة Sci Rep (2020)

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory

بواسطة Leong, Ivone U. S., Stuckey, Alexander, Belluoccio, Daniele, Fan, Vicky, Skinner, Jonathan R., Prosser, Debra O., Love, Donald. R.
الحاوية / القاعدة Med Sci (Basel) (2017)

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene

بواسطة Leong, Ivone U. S., Sucich, Jennifer, Prosser, Debra O., Skinner, Jonathan R., Crawford, Jackie R., Higgins, Colleen, Love, Donald R.
الحاوية / القاعدة Ups J Med Sci (2015)

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

بواسطة Leong, Ivone U.S., Dryland, Philippa A., Prosser, Debra O., Lai, Stella W.-S., Graham, Mandy, Stiles, Martin, Crawford, Jackie, Skinner, Jonathan R., Love, Donald R.
الحاوية / القاعدة J Clin Med Res (2017)

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

بواسطة Nickerson, Sarah L., Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U. S., Prosser, Debra O., Love, Jennifer M., George, Alice M., Taylor, Graham, Wilson, Callum, McKinlay Gardner, R. J., Love, Donald R.
الحاوية / القاعدة Microarrays (Basel) (2015)