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American Journal of Human Genetics|April 10, 2002
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasiaEri Arikawa-Hirasawa, Alexander H Le, Ichizo Nishino, et al.American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, 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.European Journal of Pediatrics|December 17, 2009
Schimke immunoosseous dysplasia: defining skeletal featuresKshamta B Hunter, Thomas Lücke, Jürgen Spranger, et al.American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.Nature Genetics|January 19, 2002
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel, Hiroshi Takashima, Joy John, et al.American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.Pageof 3