Clinical utility gene card for: Alport syndrome – update 2014

by Hertz, Jens Michael, Thomassen, Mads, Storey, Helen, Flinter, Frances
Published 2015

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

by Wang, Yanyan, Sivakumar, Vanessa, Mohammad, Mardhiah, Colville, Deb, Storey, Helen, Flinter, Frances, Dagher, Hayat, Savige, Judy
Published 2014

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

by Mohammad, Mardhiah, Nanra, Ranjit, Colville, Deb, Trevillian, Paul, Wang, Yanyan, Storey, Helen, Flinter, Frances, Savige, Judy
Published 2014

Diagnostic Tests to Support Late-Stage Control Programs for Schistosomiasis and Soil-Transmitted Helminthiases

by Hawkins, Kenneth R., Cantera, Jason L., Storey, Helen L., Leader, Brandon T., de los Santos, Tala
Published 2016

A Meta-Analysis of Typhoid Diagnostic Accuracy Studies: A Recommendation to Adopt a Standardized Composite Reference

by Storey, Helen L., Huang, Ying, Crudder, Chris, Golden, Allison, de los Santos, Tala, Hawkins, Kenneth
Published 2015

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

by Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.
Published 2015

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

by Savige, Judith, Storey, Helen, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet, Torra, Roser, Hertz, Jens Michael, Thomassen, Mads, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato
Published 2016