检索结果 - Vona, Barbara

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

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

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

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Confirmation of GRHL2 as the gene for the DFNA28 locus 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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