Acute cortical deafness in a child with MELAS syndrome

by Pittet, Marie P., Idan, Roni B., Kern, Ilse, Guinand, Nils, Van, Hélène Cao, Toso, Seema, Fluss, Joël
Published 2016

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

by Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Published 2014

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

by Davis, Erica E., Zhang, Qi, Liu, Qin, Diplas, Bill H., Davey, Lisa M., Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V., Muzny, Donna M., Young, Alice C., Wheeler, David A., Cruz, Pedro, Morgan, Margaret, Lewis, Lora R., Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F., Mullikin, James C., Blakesley, Robert W., Bouffard, Gerard G., Gyapay, Gabor, Reiger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A., Neuhaus, Thomas J., Swoboda, Kathryn J., Kayserili, Hulya, Gallagher, Tomas E., Lewis, Richard A., Bergmann, Carsten, Otto, Edgar A., Saunier, Sophie, Scambler, Peter J., Beales, Philip L., Gleeson, Joseph G., Maher, Eamonn R., Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A., Green, Eric D., Gibbs, Richard A., Hildebrandt, Friedhelm, Pierce, Eric A., Katsanis, Nicholas
Published 2011