Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21

por Volk, Marija, Maver, Aleš, Lovrečić, Luca, Juvan, Peter, Peterlin, Borut
Publicado 2013

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21

por Volk, Marija, Maver, Aleš, Hodžić, Alenka, Lovrečić, Luca, Peterlin, Borut
Publicado 2017

Clinical utility of array comparative genomic hybridisation in prenatal setting

por Lovrecic, Luca, Remec, Ziga Iztok, Volk, Marija, Rudolf, Gorazd, Writzl, Karin, Peterlin, Borut
Publicado 2016

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmento...

por Krašovec, Tjaša, Kobal, Nina, Šuštar Habjan, Maja, Volk, Marija, Hawlina, Marko, Fakin, Ana
Publicado 2023

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

por Stavber, Lana, Bertok, Sara, Kovač, Jernej, Volk, Marija, Lovrečić, Luca, Battelino, Tadej, Hovnik, Tinka
Publicado 2017

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

por Kobal, Nina, Krašovec, Tjaša, Šuštar, Maja, Volk, Marija, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy

por Krašovec, Tjaša, Volk, Marija, Šuštar Habjan, Maja, Hawlina, Marko, Vidović Valentinčič, Nataša, Fakin, Ana
Publicado 2022

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

por Sajovic, Jana, Meglič, Andrej, Volk, Marija, Maver, Aleš, Jarc-Vidmar, Martina, Hawlina, Marko, Fakin, Ana
Publicado 2023

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

por Hadalin, Vlasta, Buscarino, Maša, Sajovic, Jana, Meglič, Andrej, Jarc-Vidmar, Martina, Hawlina, Marko, Volk, Marija, Fakin, Ana
Publicado 2023

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

por Tekavčič Pompe, Manca, Vrabič, Nika, Volk, Marija, Meglič, Andrej, Jarc-Vidmar, Martina, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

por Hadalin, Vlasta, Šuštar, Maja, Volk, Marija, Maver, Aleš, Sajovic, Jana, Jarc-Vidmar, Martina, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

por BERTOK, Sara, ŽERJAV TANŠEK, Mojca, KOTNIK, Primož, BATTELINO, Tadej, VOLK, Marija, PECILE, Vanna, CLEVA, Lisa, GASPARINI, Paolo, KOVAČ, Jernej, HOVNIK, Tinka
Publicado 2015

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series

por Petrovic Pajic, Sanja, Jarc-Vidmar, Martina, Fakin, Ana, Sustar Habjan, Maja, Brecelj, Jelka, Volk, Marija, Maver, Ales, Peterlin, Borut, Hawlina, Marko
Publicado 2022

Impact of prenatal screening on the prevalence of Down syndrome in Slovenia

por Rudolf, Gorazd, Tul, Nataša, Verdenik, Ivan, Volk, Marija, Brezigar, Anamarija, Kokalj Vokač, Nadja, Jeršin, Nataša, Prosenc, Bernarda, Premru Sršen, Tanja, Peterlin, Borut
Publicado 2017

The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy

por Petrovic Pajic, Sanja, Lapajne, Luka, Vratanar, Bor, Fakin, Ana, Jarc-Vidmar, Martina, Sustar Habjan, Maja, Volk, Marija, Maver, Ales, Peterlin, Borut, Hawlina, Marko
Publicado 2022

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