Výsledky vyhledávání - Vona, Barbara

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus Autor Vona, Barbara

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The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment Autor Vona, Barbara, Rad, Aboulfazl, Reisinger, Ellen

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Genetics of Tinnitus: Still in its Infancy Autor Vona, Barbara, Nanda, Indrajit, Shehata-Dieler, Wafaa, Haaf, Thomas

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Confirmation of GRHL2 as the gene for the DFNA28 locus Autor Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Müller, Tobias, Haaf, Thomas

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Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss Autor Vona, Barbara, Doll, Julia, Hofrichter, Michaela A. H., Haaf, Thomas, Varshney, Gaurav K.

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Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway Autor Peixoto Pinheiro, Barbara, Vona, Barbara, Löwenheim, Hubert, Rüttiger, Lukas, Knipper, Marlies, Adel, Youssef

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A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities Autor Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry

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Hereditary hearing loss SNP-microarray pilot study Autor Vona, Barbara, Hofrichter, Michaela A. H., Schröder, Jörg, Shehata-Dieler, Wafaa, Nanda, Indrajit, Haaf, Thomas

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Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature Autor Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Schröder, Jörg, Kalscheuer, Vera M, Shehata-Dieler, Wafaa, Haaf, Thomas

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Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research Autor Szczepek, Agnieszka J., Frejo, Lidia, Vona, Barbara, Trpchevska, Natalia, Cederroth, Christopher R., Caria, Helena, Lopez-Escamez, Jose A.

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A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family Autor Doll, Julia, Hofrichter, Michaela A. H., Bahena, Paulina, Heihoff, Alfred, Segebarth, Dennis, Müller, Tobias, Dittrich, Marcus, Haaf, Thomas, Vona, Barbara

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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report Autor Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas

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Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family Autor Vona, Barbara, Maroofian, Reza, Mendiratta, Geetu, Croken, Matthew, Peng, Siwu, Ye, Xiaoqian, Rezazadeh, Jamileh, Bahena, Paulina, Lekszas, Caroline, Haaf, Thomas, Edelmann, Lisa, Shi, Lisong

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Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion Autor Lekszas, Caroline, Foresti, Ombretta, Raote, Ishier, Liedtke, Daniel, König, Eva-Maria, Nanda, Indrajit, Vona, Barbara, De Coster, Peter, Cauwels, Rita, Malhotra, Vivek, Haaf, Thomas

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

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Radixin modulates the function of outer hair cell stereocilia Autor Prasad, Sonal, Vona, Barbara, Diñeiro, Marta, Costales, María, González-Aguado, Rocío, Fontalba, Ana, Diego-Pérez, Clara, Subasioglu, Asli, Bademci, Guney, Tekin, Mustafa, Cabanillas, Rubén, Cadiñanos, Juan, Fridberger, Anders

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Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations Autor Vona, Barbara, Müller, Tobias, Nanda, Indrajit, Neuner, Cordula, Hofrichter, Michaela A. H., Schröder, Jörg, Bartsch, Oliver, Läßig, Anne, Keilmann, Annerose, Schraven, Sebastian, Kraus, Fabian, Shehata-Dieler, Wafaa, Haaf, Thomas

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Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study Autor Tropitzsch, Anke, Schade-Mann, Thore, Gamerdinger, Philipp, Dofek, Saskia, Schulte, Björn, Schulze, Martin, Battke, Florian, Fehr, Sarah, Biskup, Saskia, Heyd, Andreas, Müller, Marcus, Löwenheim, Hubert, Vona, Barbara, Holderried, Martin

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome Autor Rad, Aboulfazl, Najafi, Maryam, Suri, Fatemeh, Abedini, Soheila, Loum, Stephen, Karimiani, Ehsan Ghayoor, Daftarian, Narsis, Murphy, David, Doosti, Mohammad, Moghaddasi, Afrooz, Ahmadieh, Hamid, Sabbaghi, Hamideh, Rajati, Mohsen, Hashemi, Narges, Vona, Barbara, Schmidts, Miriam

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Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine Autor Sokolova, Tatiana N., Breder, Valeriy V., Shumskaya, Irina S., Suspitsin, Evgeny N., Aleksakhina, Svetlana N., Yanus, Grigoriy A., Tiurin, Vladislav I., Ivantsov, Alexandr O., Vona, Barbara, Raskin, Grigoriy A., Gamajunov, Sergey V., Imyanitov, Evgeny N.

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