Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report

Por Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel
Publicado em 2017-07-01

Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness

Por Nikki, Rink, Martin, Bitzan, Gus, O'Gorman, Mato, Nagel, Elena, Torban, Paul, Goodyer
Publicado em 2012

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene

Por Wojciech Wolyniec, Sonia Kaniuka- Jakubowska, Mato Nagel, Zuzanna Wolyniec, Lukasz Obolonczyk, Renata Swiatkowska-Stodulska, Krzysztof Sworczak, Marcin Renke
Publicado em 2016-05-01

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

Por Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel
Publicado em 2016-01-01