Showing results (101-110 of 111) with videos related to
Sort By:
Pageof 12
Human Mutation|July 5, 2016
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human DeafnessAtteeq U Rehman, Jonathan E Bird, Rabia Faridi, et al.BMC Musculoskeletal Disorders|August 30, 2022
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindredsMehran Kausar, Noor Ul Ain, Farzana Hayat, et al.American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 24, 2022
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic DysplasiaMadeline Louise Reilly, Noor Ul Ain, Mari Muurinen, et al.Journal of Neurology|February 14, 2016
The role of mutations in COL6A3 in isolated dystoniaKatja Lohmann, Felix Schlicht, Marina Svetel, et al.Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.JCI Insight|June 21, 2019
TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearingTatsuya Katsuno, Inna A Belyantseva, Alexander X Cartagena-Rivera, et al.Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.The Journal of Cell Biology|June 5, 2025
Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivityInna A Belyantseva, Chang Liu, Abigail K Dragich, et al.Pageof 12