Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage

por Lovrečić, Luca, Pereza, Nina, Jaklič, Helena, Ostojić, Saša, Peterlin, Borut
Publicado 2019

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

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

por Višnjar, Tanja, Maver, Aleš, Writzl, Karin, Maloku, Ornela, Bergant, Gaber, Jaklič, Helena, Neubauer, David, Fogolari, Federico, Pečarič Meglič, Nuška, Peterlin, Borut
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

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

por Potrč, Maja, Volk, Marija, de Rosa, Matteo, Pižem, Jože, Teran, Nataša, Jaklič, Helena, Maver, Aleš, Drnovšek-Olup, Brigita, Bollati, Michela, Vogelnik, Katarina, Hočevar, Alojzija, Gornik, Ana, Pfeifer, Vladimir, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021