Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling
N Ilic, N Mitrovic, R Radeta, S Krasić, V Vukomanović, G Samardzija, M Vasic, A Vlahovic, A Sarajlija
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21
A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija
Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia
S Cirkovic, M Guc-Scekic, D Vujic, N Ilic, D Micic, D Skoric, A Jovanovic
Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
M Parezanović, N Ilić, S Ostojić, G Stevanović, J Ječmenica, A Maver, A Sarajlija