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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D. Koparir A, et al. Among authors: vona b. Hum Genomics. 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w. Hum Genomics. 2024. PMID: 38448978 Free PMC article.
Heritability and Tinnitus.
Vona B. Vona B. JAMA Otolaryngol Head Neck Surg. 2019 Mar 1;145(3):229-230. doi: 10.1001/jamaoto.2018.3946. JAMA Otolaryngol Head Neck Surg. 2019. PMID: 30653225 No abstract available.
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine.
Sokolova TN, Breder VV, Shumskaya IS, Suspitsin EN, Aleksakhina SN, Yanus GA, Tiurin VI, Ivantsov AO, Vona B, Raskin GA, Gamajunov SV, Imyanitov EN. Sokolova TN, et al. Among authors: vona b. Hered Cancer Clin Pract. 2021 Jan 6;19(1):2. doi: 10.1186/s13053-020-00157-8. Hered Cancer Clin Pract. 2021. PMID: 33407806 Free PMC article.
Confirmation of GRHL2 as the gene for the DFNA28 locus.
Vona B, Nanda I, Neuner C, Müller T, Haaf T. Vona B, et al. Am J Med Genet A. 2013 Aug;161A(8):2060-5. doi: 10.1002/ajmg.a.36017. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813623 Free PMC article.
97 results