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Nature Genetics|July 1, 2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew J Rock, Jean Prenen, Vincent A Funari, et al.Journal of Human Genetics|July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type IIZheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, et al.The New England Journal of Medicine|January 22, 2010
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210Patrick Smits, Andrew D Bolton, Vincent Funari, et al.The Journal of Thoracic and Cardiovascular Surgery|February 20, 2016
The American Association for Thoracic Surgery Consensus Guidelines: Reasons and purposeLars G Svensson, A Marc Gillinov, Richard D Weisel, et al.American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.EMBO Molecular Medicine|November 17, 2020
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signalingMichaela Bosakova, Sara P Abraham, Alexandru Nita, et al.American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.Pageof 79