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EMBO Molecular Medicine|November 1, 2017
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survivalVincent Michel, Kevin T Booth, Pranav Patni, et al.Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|February 18, 2025
Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy MechanismMathilde Gagliardini, Sabrina Mechaussier, Carolina Campos Pina, et al.Science Translational Medicine|October 5, 2022
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile miceKonstantina Chachlaki, Andrea Messina, Virginia Delli, et al.Proceedings of the National Academy of Sciences of the United States of America|November 24, 2020
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusisSophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani, et al.Pageof 11