An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey

por Vona, Barbara
Publicado 2023

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus

por Vona, Barbara
Publicado 2022

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment

por Vona, Barbara, Rad, Aboulfazl, Reisinger, Ellen
Publicado 2020

Genetics of Tinnitus: Still in its Infancy

por Vona, Barbara, Nanda, Indrajit, Shehata-Dieler, Wafaa, Haaf, Thomas
Publicado 2017

Confirmation of GRHL2 as the gene for the DFNA28 locus

por Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Müller, Tobias, Haaf, Thomas
Publicado 2013

Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway

por Peixoto Pinheiro, Barbara, Vona, Barbara, Löwenheim, Hubert, Rüttiger, Lukas, Knipper, Marlies, Adel, Youssef
Publicado 2020

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

por Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry
Publicado 2021

Hereditary hearing loss SNP-microarray pilot study

por Vona, Barbara, Hofrichter, Michaela A. H., Schröder, Jörg, Shehata-Dieler, Wafaa, Nanda, Indrajit, Haaf, Thomas
Publicado 2018

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

por Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Schröder, Jörg, Kalscheuer, Vera M, Shehata-Dieler, Wafaa, Haaf, Thomas
Publicado 2014

mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat

por Engert, Jonas, Doll, Julia, Vona, Barbara, Ehret Kasemo, Totta, Spahn, Bjoern, Hagen, Rudolf, Rak, Kristen, Voelker, Johannes
Publicado 2023

Is there an unmet medical need for improved hearing restoration?

por Wolf, Bettina Julia, Kusch, Kathrin, Hunniford, Victoria, Vona, Barbara, Kühler, Robert, Keppeler, Daniel, Strenzke, Nicola, Moser, Tobias
Publicado 2022

FGFR1 variants contributed to families with tooth agenesis

por Yao, Siyue, Zhou, Xi, Gu, Min, Zhang, Chengcheng, Bartsch, Oliver, Vona, Barbara, Fan, Liwen, Ma, Lan, Pan, Yongchu
Publicado 2023

Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research

por Szczepek, Agnieszka J., Frejo, Lidia, Vona, Barbara, Trpchevska, Natalia, Cederroth, Christopher R., Caria, Helena, Lopez-Escamez, Jose A.
Publicado 2019

A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family

por Doll, Julia, Hofrichter, Michaela A. H., Bahena, Paulina, Heihoff, Alfred, Segebarth, Dennis, Müller, Tobias, Dittrich, Marcus, Haaf, Thomas, Vona, Barbara
Publicado 2020

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

por Yao, Siyue, Zhou, Xi, Vona, Barbara, Fan, Liwen, Zhang, Chengcheng, Li, Dandan, Yuan, Hua, Du, Yifei, Ma, Lan, Pan, Yongchu
Publicado 2022

Unraveling haplotype errors in the DFNA33 locus

por Vona, Barbara, Regele, Sabrina, Rad, Aboulfazl, Strenzke, Nicola, Pater, Justin A., Neumann, Katrin, Sturm, Marc, Haack, Tobias B., Am Zehnhoff-Dinnesen, Antoinette G.
Publicado 2023

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

por Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas
Publicado 2019

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

por Lekszas, Caroline, Foresti, Ombretta, Raote, Ishier, Liedtke, Daniel, König, Eva-Maria, Nanda, Indrajit, Vona, Barbara, De Coster, Peter, Cauwels, Rita, Malhotra, Vivek, Haaf, Thomas
Publicado 2020

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder

por Pauly, Martje G., Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja
Publicado 2023

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

por Hofrichter, Michaela A. H., Mojarad, Majid, Doll, Julia, Grimm, Clemens, Eslahi, Atiye, Hosseini, Neda Sadat, Rajati, Mohsen, Müller, Tobias, Dittrich, Marcus, Maroofian, Reza, Haaf, Thomas, Vona, Barbara
Publicado 2018