Auflistung Universitätsbibliographie nach Autor "Vona, Barbara"

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Auflistung Universitätsbibliographie nach Autor "Vona, Barbara"

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  • Non-syndromic hearing loss: clinical and diagnostic challenges
    Vona, Barbara; Doll, Julia; Hofrichter, Michaela A. H.; Haaf, Thomas (2020)
  • Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
    Doll, Julia; Kolb, Susanne; Schnapp, Linda; Rad, Aboulfazl; Ruschendorf, Franz; Khan, Imran; Adli, Abolfazl; Hasanzadeh, Atefeh; Liedtke, Daniel; Knaup, Sabine; Hofrichter, Michaela A. H.; Mueller, Tobias; Dittrich, Marcus; Kong, Il-Keun; Kim, Hyung-Goo; Haaf, Thomas; Vona, Barbara (2020)
  • Radixin modulates the function of outer hair cell stereocilia
    Prasad, Sonal; Vona, Barbara; Dineiro, Marta; Costales, Maria; Gonzalez-Aguado, Rocio; Fontalba, Ana; Diego-Perez, Clara; Subasioglu, Asli; Bademci, Guney; Tekin, Mustafa; Cabanillas, Ruben; Cadinanos, Juan; Fridberger, Anders (2020)
  • Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine
    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. (2021)
  • SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
    Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T.; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; Wit, Jan M.; Dittrich, Marcus; Freire, Bruna L.; Bertola, Debora R.; Jorge, Alexander A. L.; Barel, Ortal; Sabir, Ataf H.; Al Tenaiji, Amal M. J.; Taji, Sulaima M.; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S. L.; Girisha, Katta M.; Haaf, Thomas; Taylor, Jenny C.; Dallapiccola, Bruno; Alkuraya, Fowzan S.; Yang, Ruey-Bing; Tartaglia, Marco (2021)
  • Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
    Vona, Barbara; Doll, Julia; Hofrichter, Michaela A. H.; Haaf, Thomas; Varshney, Gaurav K. (2020)
  • Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
    Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos-Pinero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C. (2023)
  • The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study
    Sabbaghi, Hamideh; Daftarian, Narsis; Suri, Fatemeh; Mirrahimi, Mehraban; Madani, Sina; Sheikhtaheri, Abbas; Khorrami, Farid; Saviz, Proshat; Nejad, Mohammad Zarei; Tivay, Ali; Shahriari, Hossein Ali; Maleki, Alireza; Ahmadi, Seyed Sajad; Sargazi, Monireh; Cremers, Frans P. M.; Najafi, Maryam; Vona, Barbara; Haaf, Thomas; Bahena-Carbajal, Paulina; Moghadasi, Afrooz; Naraghi, Houra; Yaseri, Mehdi; Kheiri, Bahareh; Kalantarion, Masoumeh; Sabbaghi, Elham; Salami, Mahtab; Pazooki, Laleh; Zendedel, Kazem; Mojarrab, Shahnaz; Ahmadieh, Hamid (2020)
  • The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
    Vona, Barbara; Rad, Aboulfazl; Reisinger, Ellen (2020)
  • Unraveling haplotype errors in the DFNA33 locus
    Vona, Barbara; Regele, Sabrina; Rad, Aboulfazl; Strenzke, Nicola; Pater, Justin A.; Neumann, Katrin; Sturm, Marc; Haack, Tobias B.; Zehnhoff-Dinnesen, Antoinette G. Am (2023)
  • Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
    Bahena, Paulina; Daftarian, Narsis; Maroofian, Reza; Linares, Paola; Villalobos, Daniel; Mirrahimi, Mehraban; Rad, Aboulfazl; Doll, Julia; Hofrichter, Michaela A. H.; Koparir, Asuman; Roeder, Tabea; Han, Seungbin; Sabbaghi, Hamideh; Ahmadieh, Hamid; Behboudi, Hassan; Villanueva-Mendoza, Cristina; Cortes-Gonzalez, Vianney; Zamora-Ortiz, Rocio; Kohl, Susanne; Kuehlewein, Laura; Darvish, Hossein; Alehabib, Elham; De la Luz Arenas-Sordo, Maria; Suri, Fatemeh; Vona, Barbara; Haaf, Thomas (2022)
  • Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss
    Tropitzsch, Anke; Schade-Mann, Thore; Gamerdinger, Philipp; Dofek, Saskia; Schulte, Bjoern; Schulze, Martin; Fehr, Sarah; Biskup, Saskia; Haack, Tobias B.; Stoebe, Petra; Heyd, Andreas; Harre, Jennifer; Lesinski-Schiedat, Anke; Buechner, Andreas; Lenarz, Thomas; Warnecke, Athanasia; Mueller, Marcus; Vona, Barbara; Dahlhoff, Ernst; Loewenheim, Hubert; Holderried, Martin (2023)