An Unusual Case of Syringohydromyelia Presenting with Neurogenic Bladder

por Geljic, Antonella, Abdovic, Slaven, Stampalija, Fran, Loncar, Lana, Tripalo, Batos A., Cuk, Martin
Publicado 2019

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report

por Šenjug, Petar, Nikuševa Martić, Tamara, Šenjug Perica, Marija, Oroz, Maja, Horaček, Matija, Ćuk, Martin, Abdović, Slaven, Galešić Ljubanović, Danica
Publicado 2019

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

por Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.
Publicado 2021