Browsing Otorhinolaryngology by Title

Browsing Otorhinolaryngology by Title

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  • Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 
    Yan, Denise; Tekin, Demet; Bademci, Guney; Foster II, Joseph; Cengiz, F. Basak; Kannan‑Sundhari, Abhiraami; Guo, Shengru; Mittal, Rahul; Zou, Bing; Grati, Mhamed; Kabahuma, Rosemary Ida; Kameswaran, Mohan; Lasisi, Taye J.; Adedeji, Waheed A.; Lasisi, Akeem O.; Menendez, Ibis; Herrera, Marianna; Carranza, Claudia; Maroofian, Reza; Crosby, Andrew H.; Bensaid, Mariem; Masmoudi, Saber; Behnam, Mahdiyeh; Mojarrad, Majid; Feng, Yong; Duman, Duygu; Mawla, Alex M.; Nord, Alex S.; Blanton, Susan H.; Liu, Xue Z.; Tekin, Mustafa (Springer, 2016-08)
    Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is ...
  • Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations 
    Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Blanton, Susan Halloran; Pepper, Michael Sean; Liu, Xue Zhong (MDPI, 2021-02-15)
    MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 ...
  • Transoral robotic surgery (TORS) in South Africa 
    Fagan, J.J.; Wetter, Julie; Joseph, Christopher A.; Donde, Bernard (Health and Medical Publishing Group, 2017-01)
    A series of two-page advertisements have appeared in the September and November 2016 issues of the SAMJ, entitled ‘da Vinci Transoral Robotic Surgery (TORS) is a minimally invasive alternative to open surgery and full-dose ...