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International Journal of Molecular Sciences|June 4, 2020
<i>DFNA5</i> (<i>GSDME</i>) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?Kevin T Booth, Hela Azaiez, Richard J H Smith
Journal of Medical Genetics|April 29, 2018
Old gene, new phenotype: splice-altering variants in <i>CEACAM16</i> cause recessive non-syndromic hearing impairmentKevin T Booth, Kimia Kahrizi, Hossein Najmabadi, et al.
Frontiers in Genetics|June 6, 2018
Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and PerspectiveKevin T Booth, Hela Azaiez, Israt Jahan, et al.
Human Genetics|January 20, 2022
Genetic etiology of hearing loss in IranMojgan Babanejad, Maryam Beheshtian, Fereshteh Jamshidi, et al.
Human Mutation|December 22, 2017
Exonic mutations and exon skipping: Lessons learned from DFNA5Kevin T Booth, Hela Azaiez, Kimia Kahrizi, et al.
Journal of Medical Genetics|August 12, 2022
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantationYuan-Siao Chen, Ernesto Cabrera, Brady J Tucker, et al.
The Annals of Otology, Rhinology, and Laryngology|March 21, 2015
Mutations in LOXHD1 gene cause various types and severities of hearing lossKentaro Mori, Hideaki Moteki, Yumiko Kobayashi, et al.
American Journal of Medical Genetics. Part A|August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
Stem Cell Reports|June 18, 2019
Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear OrganoidsPei-Ciao Tang, Alpha L Alex, Jing Nie, et al.
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