Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

por Kovač, Jernej, Klančar, Gašper, Trebušak Podkrajšek, Katarina, Battelino, Saba
Publicado 2017

Unraveling the Etiology of Pediatric Vertigo and Dizziness: A Tertiary Pediatric Center Experience

por Božanić Urbančič, Nina, Vozel, Domen, Urbančič, Jure, Battelino, Saba
Publicado 2021

The Importance of Early Genetic Diagnostics of Hearing Loss in Children

por Božanić Urbančič, Nina, Battelino, Saba, Tesovnik, Tine, Trebušak Podkrajšek, Katarina
Publicado 2020

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature

por Trebusak Podkrajsek, Katarina, Tesovnik, Tine, Bozanic Urbancic, Nina, Battelino, Saba
Publicado 2021

Slovenian Cross-Cultural Adaptation and Validation of Health-Related Quality of Life Measures for Chronic Otitis Media (COMQ-12), Vertigo (DHI, NVI) and TINNITUS (THI)

por Vozel, Domen, Steiner, Nejc, Božanić Urbančič, Nina, Mladenov, Dejan, Battelino, Saba
Publicado 2020

Dataset on amelogenesis-related genes variants (ENAM and ENAM interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without mola...

por Hočevar, Luka, Kovač, Jernej, Podkrajšek, Katarina Trebušak, Battelino, Saba, Pavlič, Alenka
Publicado 2020

Reliability of parental assessment of auditory skills in young children: a cross-sectional study in Italian language

por Orzan, Eva, Battelino, Saba, Ciciriello, Elena, Bonifacio, Serena, Pellizzoni, Sandra, Saksida, Amanda
Publicado 2021

The Importance of Flaps in Reconstruction of Locoregionally Advanced Lateral Skull-base Cancer Defects: a Tertiary Otorhinolaryngology Referral Centre Experience

por Vozel, Domen, Pukl, Peter, Groselj, Ales, Anicin, Aleksandar, Strojan, Primoz, Battelino, Saba
Publicado 2021

Attention to Speech and Music in Young Children with Bilateral Cochlear Implants: A Pupillometry Study

por Saksida, Amanda, Ghiselli, Sara, Picinali, Lorenzo, Pintonello, Sara, Battelino, Saba, Orzan, Eva
Publicado 2022

Vector-Borne Tularemia: A Re-Emerging Cause of Cervical Lymphadenopathy

por Troha, Kaja, Božanić Urbančič, Nina, Korva, Miša, Avšič-Županc, Tatjana, Battelino, Saba, Vozel, Domen
Publicado 2022

Does intervention with GLP-1 receptor agonist semaglutide modulate perception of sweet taste in women with obesity: study protocol of a randomized, single-blinded, placebo-controll...

por Jensterle, Mojca, Ferjan, Simona, Battelino, Tadej, Kovač, Jernej, Battelino, Saba, Šuput, Dušan, Vovk, Andrej, Janež, Andrej
Publicado 2021

Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

por Zupan, Andrej, Fakin, Ana, Battelino, Saba, Jarc-Vidmar, Martina, Hawlina, Marko, Bonnet, Crystel, Petit, Christine, Glavač, Damjan
Publicado 2019

Malignant Syphilis in a Female Patient: A Case Report and Mini-Review

por Dimnik, Julija, Benko, Maja, Hosta, Violeta, Murnik Rauh, Andreja, Pagon, Andreja, Špik, Vesna Cvitković, Battelino, Saba, Vozel, Domen
Publicado 2022

Autologous Platelet- and Extracellular Vesicle-Rich Plasma Is an Effective Treatment Modality for Chronic Postoperative Temporal Bone Cavity Inflammation: Randomized Controlled Cli...

por Vozel, Domen, Božič, Darja, Jeran, Marko, Jan, Zala, Pajnič, Manca, Pađen, Ljubiša, Steiner, Nejc, Kralj-Iglič, Veronika, Battelino, Saba
Publicado 2021

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

por Fakin, Ana, Šuštar, Maja, Brecelj, Jelka, Bonnet, Crystel, Petit, Christine, Zupan, Andrej, Glavač, Damjan, Jarc-Vidmar, Martina, Battelino, Saba, Hawlina, Marko
Publicado 2019

Management of Choanal Atresia: National Recommendations with a Comprehensive Literature Review

por Urbančič, Jure, Vozel, Domen, Battelino, Saba, Boršoš, Imre, Bregant, Lev, Glavan, Matic, Iglič, Črtomir, Jenko, Klemen, Lanišnik, Boštjan, Soklič Košak, Tanja
Publicado 2023

Atypical Skull-Base Osteomyelitis: Comprehensive Review and Multidisciplinary Management Viewpoints

por Urbančič, Jure, Vozel, Domen, Battelino, Saba, Bošnjak, Roman, Kokošar Ulčar, Barbara, Matos, Tadeja, Munda, Matic, Papst, Lea, Steiner, Nejc, Vouk, Matej, Zidar, Nina
Publicado 2023

Autologous Platelet and Extracellular Vesicle-Rich Plasma as Therapeutic Fluid: A Review

por Troha, Kaja, Vozel, Domen, Arko, Matevž, Bedina Zavec, Apolonija, Dolinar, Drago, Hočevar, Matej, Jan, Zala, Kisovec, Matic, Kocjančič, Boštjan, Pađen, Ljubiša, Pajnič, Manca, Penič, Samo, Romolo, Anna, Repar, Neža, Spasovski, Vesna, Steiner, Nejc, Šuštar, Vid, Iglič, Aleš, Drobne, Damjana, Kogej, Ksenija, Battelino, Saba, Kralj-Iglič, Veronika
Publicado 2023

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

por Jonard, Laurence, Brotto, Davide, Moreno-Pelayo, Miguel A., del Castillo, Ignacio, Kremer, Hannie, Pennings, Ronald, Caria, Helena, Fialho, Graça, Boudewyns, An, Van Camp, Guy, Ołdak, Monika, Oziębło, Dominika, Deggouj, Naïma, De Siati, Romolo Daniele, Gasparini, Paolo, Girotto, Giorgia, Verstreken, Margriet, Dossena, Silvia, Roesch, Sebastian, Battelino, Saba, Trebušak Podkrajšek, Katarina, Warnecke, Athanasia, Lenarz, Thomas, Lesinski-Schiedat, Anke, Mondain, Michel, Roux, Anne-Françoise, Denoyelle, Françoise, Loundon, Natalie, Serey Gaut, Margaux, Trevisi, Patrizia, Rubinato, Elisa, Martini, Alessandro, Marlin, Sandrine
Publicado 2023

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado 2016