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A novel form of ischio-vertebral syndrome.
Kaissi AA, Chehida FB, Latos-Bielenska A, Gharbi H, Ghachem MB, Hendaoui L, Kozlowski K. Kaissi AA, et al. Among authors: kozlowski k. Skeletal Radiol. 2007 Jan;36(1):77-81. doi: 10.1007/s00256-005-0073-1. Epub 2006 Mar 18. Skeletal Radiol. 2007. PMID: 16547749
Robinow syndrome: report of two cases and review of the literature.
Al Kaissi A, Bieganski T, Baranska D, Chehida FB, Gharbi H, Ghachem MB, Hendaoui L, Safi H, Kozlowski K. Al Kaissi A, et al. Among authors: kozlowski k. Australas Radiol. 2007 Feb;51(1):83-6. doi: 10.1111/j.1440-1673.2006.01668.x. Australas Radiol. 2007. PMID: 17217496 Review.
A novel syndrome resembling Desbuquois dysplasia.
Al Kaissi A, Nessib N, Ghachem MB, Hammou A, Guiddana N, Kozlowski K. Al Kaissi A, et al. Among authors: kozlowski k. Am J Med Genet A. 2005 Jan 1;132A(1):68-75. doi: 10.1002/ajmg.a.30344. Am J Med Genet A. 2005. PMID: 15558723
Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K. Badura-Stronka M, et al. Among authors: kozlowski k. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25776145
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. Among authors: kozlowski k. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883
585 results