Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2

por Leonardis, Lea, Skrjanec Pusenjak, Marusa, Maver, Ales, Jaklic, Helena, Ozura Brecko, Ana, Koritnik, Blaz, Peterlin, Borut, Writzl, Karin
Publicado 2022

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

por Vodnjov, Nina, Toplišek, Janez, Maver, Aleš, Čuturilo, Goran, Jaklič, Helena, Teran, Nataša, Višnjar, Tanja, Škrjanec Pušenjak, Maruša, Hodžić, Alenka, Miljanović, Olivera, Peterlin, Borut, Writzl, Karin
Publicado 2023

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.
Publicado 2021