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Page 1
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S. Nayak G, et al. Among authors: profant m. Hum Genet. 2015 Apr;134(4):423-37. doi: 10.1007/s00439-015-1532-y. Epub 2015 Feb 10. Hum Genet. 2015. PMID: 25666562 Free PMC article.
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D. Mašindová I, et al. Among authors: profant m. PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015. PLoS One. 2015. PMID: 25885414 Free PMC article.
Hereditary bilateral sudden sensorineural hearing loss.
Varga L, Jovankovicova A, Huckova M, Demesova L, Gasperikova D, Sebova I, Profant M. Varga L, et al. Among authors: profant m. Bratisl Lek Listy. 2019;120(9):699-702. doi: 10.4149/BLL_2019_118. Bratisl Lek Listy. 2019. PMID: 31475558
51 results