Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Abram P. Vore"'
Autor:
Richard J.H. Smith, Adam B. Kanis, Lisbeth Tranebjærg, Lih Yeen Tan, Abram P. Vore, James T. Brookes
Publikováno v:
International journal of pediatric otorhinolaryngology. 72(1)
To report the results of the first known cochlear implantation in a patient with deafness-dystonia-optic neuronopathy (DDON) syndrome (Mohr-Tranebaerg syndrome, DFN-1). DDON syndrome is an X-linked condition characterized by postlingual sensorineural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::178b9fe1f955aa03cfe9696987f00213
https://pubmed.ncbi.nlm.nih.gov/17936919
https://pubmed.ncbi.nlm.nih.gov/17936919
Autor:
Abram P. Vore, Colleen A. Campbell, Richard J.H. Smith, Daniel W. Burke, Merlin G. Butler, Jane E. Hoppe, Michael C. Schneider, Shawnia Forrester, Eugene H. Chang, Luke L. H. Smith
Publikováno v:
Archives of Otolaryngology–Head & Neck Surgery. 131:1057
Objective To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus. Design Computed tomographic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd6b3cf6808b45b656b6b304bbed7e8
https://doi.org/10.1001/archotol.131.12.1057
https://doi.org/10.1001/archotol.131.12.1057