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Orphanet Journal of Rare Diseases|January 15, 2021
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasiaRavi Savarirayan, David E Tunkel, Laura M Sterni, et al.
American Journal of Medical Genetics. Part A|March 3, 2015
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)Jung Min Ko, Jun-Seok Bae, Jin Sun Choi, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
American Journal of Medical Genetics. Part A|August 2, 2017
Best practices in peri-operative management of patients with skeletal dysplasiasKlane K White, Viviana Bompadre, Michael J Goldberg, et al.
Scientific Reports|November 25, 2015
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasiaBeryl Royer-Bertrand, Silvia Castillo-Taucher, Rodrigo Moreno-Salinas, et al.
Environmental Science & Technology|April 20, 2018
Agglomeration of Escherichia coli with Positively Charged Nanoparticles Can Lead to Artifacts in a Standard Caenorhabditis elegans Toxicity AssayShannon K Hanna, Antonio R Montoro Bustos, Alexander W Peterson, et al.
European Journal of Medical Genetics|December 28, 2014
Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 geneHyunwoong Park, Susie Hong, Sung Im Cho, et al.
Clinics in Orthopedic Surgery|September 2, 2014
Incidental findings on knee radiographs in children and adolescentsSang Gyo Seo, Ki Hyuk Sung, Chin Youb Chung, et al.
BMC Musculoskeletal Disorders|March 18, 2014
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control studySang Gyo Seo, Hae-Ryong Song, Hyun Woo Kim, et al.
Clinics in Orthopedic Surgery|September 7, 2013
Incidence patterns of pediatric and adolescent orthopaedic fractures according to age groups and seasons in South Korea: a population-based studyMoon Seok Park, Chin Youb Chung, In Ho Choi, et al.
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