A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study. by Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl

Get full text

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study by Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl

Get full text

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 by Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

Get full text

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 by Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

Get full text