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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 17, 2014
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1Nandina Paria, Tae-Joon Cho, In Ho Choi, et al.Journal of Cellular Physiology|November 5, 2005
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotypeHyo-Jin Kim, Soon-Hyeun Nam, Hyun-Jung Kim, et al.American Journal of Medical Genetics. Part A|March 27, 2015
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndromeEsra Dikoglu, Ali Alfaiz, Maria Gorna, et al.Clinical Orthopaedics and Related Research|May 8, 2023
Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of MobilityCarter M Lindborg, Mona Al Mukaddam, Genevieve Baujat, et al.American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.Nature Genetics|April 28, 2006
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressivaEileen M Shore, Meiqi Xu, George J Feldman, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 11, 2020
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal DysplasiaAlice Costantini, Jessica J Alm, Francesca Tonelli, et al.American Journal of Human Genetics|August 7, 2012
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type VTae-Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, et al.American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, et al.Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.Pageof 25